{"id":184,"date":"2021-02-13T10:42:37","date_gmt":"2021-02-13T01:42:37","guid":{"rendered":"https:\/\/www.epidem.hiroshima-u.ac.jp\/?page_id=184"},"modified":"2025-09-27T15:30:49","modified_gmt":"2025-09-27T06:30:49","slug":"publications","status":"publish","type":"page","link":"https:\/\/epidem.hiroshima-u.ac.jp\/en\/publications\/","title":{"rendered":"Publications"},"content":{"rendered":"\n

2025<\/strong><\/p>\n\n\n\n

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  1. Cholesterol ensures ciliary polycystin-2 localization to prevent polycystic kidney disease.<\/a> Itabashi T, Hosoba K, Morita T, Kimura S, Yamaoka K, Hirosawa M, Kobayashi D, Kishi H, Kume K, Itoh H,\u00a0Kawakami H, Hashimoto K, Yamamoto T, Miyamoto T. Life Sci Alliance. 2025 Feb 3;8(4):e202403063. doi: 10.26508\/lsa.202403063. Print 2025 Apr.<\/li>\n\n\n\n
  2. Optineurin knock-out forms TDP-43 aggregates to regulate TDP-43 protein levels despite autophagic up-regulation and aberrant TDP-43 expression.<\/a> Maetani Y, Kurashige T, Tada Y, Kume K, Watanabe T, Sotomaru Y, Yamanaka K, Maruyama H, Kawakami H. Neurosci Res. 2025 Mar 22:S0168-0102(25)00064-1. doi: 10.1016\/j.neures.2025.03.005. Online ahead of print.<\/li>\n\n\n\n
  3. Spinocerebellar ataxia type 2 followed by amyotrophic lateral sclerosis due to a pure CAG repeat expansion in ATXN2: a case report and literature review.<\/a> Ono S, Nakamura M, Ikegami T, Kajiyama Y, Kume K, Takahashi Y, Takahashi M, Mochizuki H, Mizusawa H, Kawakami H, Yakushiji Y.Neurol Sci. 2025 Jun 29. doi: 10.1007\/s10072-025-08332-2.<\/li>\n\n\n\n
  4. Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.<\/a> Iwata T, Mizoguchi Y, Yoshimoto T, Tsumura M, Sakura F, Johnson JR, Matsuda S, Ouhara K, Nagatani Y, Asano T, Ohnishi H, Kato Z, Mihara K, Kanegane H, Ueda T, Sasaki S, Taniguchi Y, Ninomiya Y, Ohno Y, Suzuki-Takedachi K, Sotomaru Y, Sakuma T, Yamamoto T, Matsuda Y,\u00a0Kume K, Sanui T, Nishimura F, Kajiya M, Ueki Y, Kurihara H, Morino H, Okada S, Kawakami H, Mizuno N.J Exp Med. 2025 Sep 1;222(9):e20231911. doi: 10.1084\/jem.20231911. Epub 2025 Jul 15.<\/li>\n\n\n\n
  5. Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants.<\/a> Watanabe T,\u00a0Kume K, Inoue K, Nakamura M, Yamamoto S, Kurashige T, Ohshita T, Tazuma T, Kaido M, Maetani Y, Maruyama H, Kawakami H.J Hum Genet. 2025 Sep 12. doi: 10.1038\/s10038-025-01405-2. Online ahead of print.PMID:\u00a040940404<\/li>\n<\/ol>\n\n\n\n

    2024<\/strong><\/p>\n\n\n\n

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    1. Loss-of-function OGFRL1<\/em> variants identified in autosomal recessive cherubism families.<\/a> Kittaka M, Mizuno N, Morino H, Yoshimoto T, Zhu T, Liu S, Wang Z, Mayahara K, Iio K, Kondo K, Kondo T, Hayashi T, Coghlan S, Teno Y, Doan AAP, Levitan M, Choi RB, Matsuda S, Ouhara K, Wan J, Cassidy AM, Pelletier S, Nampoothiri S, Urtizberea AJ, Robling AG, Ono M, Kawakami H, Reichenberger EJ, Ueki Y. JBMR Plus.<\/em><\/strong> 2024 Apr 9;8(6):ziae050. doi: 10.1093\/jbmrpl\/ziae050. eCollection 2024 Jun.<\/li>\n\n\n\n
    2. Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.<\/a> Morino H, Kurashige T, Matsuda Y, Ono M, Sahara N, Miyasaka T, Soeda Y, Shimada H, Yamazaki Y, Takahashi T, Izumi Y, Ito H, Maruyama H, Higuchi M, Arihiro K, Suhara T, Takashima A, Kawakami H. Mov Disord Clin Pract.<\/em><\/strong> 2024 Jun;11(6):720-727. doi: 10.1002\/mdc3.14042. Epub 2024 Apr 11.<\/li>\n\n\n\n
    3. C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan<\/a>. Emori S, Kume K, Nakayama Y, Ito H, Kawakami H. J Neurol Sci.<\/em><\/strong> 2024 Nov 15;466:123209. doi: 10.1016\/j.jns.2024.123209. Epub 2024 Sep 1.<\/li>\n<\/ol>\n\n\n\n

      2023<\/strong><\/p>\n\n\n\n

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      1. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis<\/a>. Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H. Am J Hum Genet<\/em><\/strong> . 2023 Jun 9:S0002-9297(23)00198-2. doi: 10.1016\/j.ajhg.2023.05.014.<\/li>\n\n\n\n
      2. An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant<\/a>. Nakamura M, Nishii M, Kume K, Kawakami H, Yakushiji Y. J Neuropathol Exp Neurol<\/em><\/strong> . 2023 Jun 6:nlad041. doi: 10.1093\/jnen\/nlad041. Online ahead of print.<\/li>\n\n\n\n
      3. ‘Raisin bread sign’ feature of pontine autosomal dominant microangiopathy and leukoencephalopathy.<\/a> Kikumoto M, Kurashige T, Ohshita T, Kume K, Kikumoto O, Nezu T, Aoki S, Ochi K, Morino H, Nomura E, Yamashita H, Kaneko M, Maruyama H, Kawakami H.<\/strong> Brain Commun.<\/em><\/strong> 2023 Oct 22;5(6):fcad281. doi: 10.1093\/braincomms\/fcad281. eCollection 2023.<\/li>\n<\/ol>\n\n\n\n

        2022<\/strong><\/p>\n\n\n\n

          \n
        1. TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis.<\/a> Kurashige T, Morino H, Murao T, Izumi Y, Sugiura T, Kuraoka K, Kawakami H, Torii T, Maruyama H. JAMA Neurol<\/em><\/strong> . 2022 Jul 1;79(7):693-701. doi: 10.1001\/jamaneurol.2022.1113.<\/li>\n\n\n\n
        2. Comparison of two families with and without ataxia harboring novel variants in PRKCG.<\/a> Tada Y, Kume K, Noguchi S, Sekiya T, Nishinaka K, Ishiguchi H, Koh J, Emori S,
          Nakayama Y, Kurashige T, Izumi Y, Ito H, Sakai N, Kawakami H. J Hum Genet<\/em><\/strong>. 2022 Jun 28. doi: 10.1038\/s10038-022-01057-6. Online ahead of print.PMID: 35760954<\/li>\n\n\n\n
        3. Spinocerebellar ataxia type 17-digenic TBP\/STUB1 disease: neuropathologic features of an autopsied patient.<\/a>Saito R, Tada Y, Oikawa D, Sato Y, Seto M, Satoh A, Kume K, Ueki N, Nakashima M, Hayashi S, Toyoshima Y, Tokunaga F, Kawakami H, Kakita A.Acta Neuropathol Commun<\/em><\/strong>. 2022 Dec 7;10(1):177. doi: 10.1186\/s40478-022-01486-6.<\/li>\n<\/ol>\n\n\n\n

          2021<\/h4>\n\n\n\n
            \n
          1. Prospects and status of the dosimetry system for atomic bomb survivor cohort study conducted at Research Institute for Radiation Biology and Medicine of Hiroshima University.<\/a> Hirota S, Yasuda H, Kawakami H, Yoshinaga S. J Radiat Res.<\/em><\/strong> 2021 May 5;62(Supplement_1):i107-i113. doi: 10.1093\/jrr\/rrab020.<\/li>\n\n\n\n
          2. Analysis of genetic risk factors in Japanese patients with Parkinson’s disease.<\/a>Kanaya Y, Kume K, Morino H, Ohsawa R, Kurashige T, Kamada M, Torii T, Izumi Y, Maruyama H, Kawakami H. J Hum Genet.<\/em><\/strong> 2021 Mar 19. doi: 10.1038\/s10038-021-00910-4. Online ahead of print.<\/li>\n\n\n\n
          3. Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells.<\/a> Imamura K, Yada Y, Izumi Y, Morita M, Kawata A, Arisato T, Nagahashi A, Enami T, Tsukita K, Kawakami H, Nakagawa M, Takahashi R, Inoue H. Ann Neurol. <\/em><\/strong>2021 Jun;89(6):1226-1233. doi: 10.1002\/ana.26047. Epub 2021 Feb 25.<\/li>\n\n\n\n
          4. Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic <\/a> lateral sclerosis.<\/a> Kume K, Kamada M, Shimatani Y, Takata T, Izumi Y, Kawakami H. J Neurol Sci. <\/em><\/strong>2021 Nov 15;430:119984. doi: 10.1016\/j.jns.2021.119984. Epub 2021 Sep 14.<\/li>\n\n\n\n
          5. FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.<\/a>Toko M, Ohshita T, Kurashige T, Morino H, Kume K, Yamashita H, Sobue G, Iwasaki Y, Sone J, Kawakami H, Maruyama H. BMC Neurol.<\/em><\/strong> 2021 Oct 12;21(1):396. doi: 10.1186\/s12883-021-02425-z.<\/li>\n\n\n\n
          6. Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions.<\/a>Ishikawa K, Araki M, Nagano Y, Motoda A, Shishido T, Kurashige T, Takahashi T, Morino H, Kawakami H, Matsumoto M, Maruyama H. Differentiation.<\/em><\/strong> 2021 Nov 25;123:1-8. doi: 10.1016\/j.diff.2021.11.004.<\/li>\n\n\n\n
          7. Porencephaly causing limb size asymmetry.<\/a><\/span> Takata T, Kume K, Kobara H, Deguchi K, Masaki T. Acta Neurol Belg.<\/em><\/strong> 2021 Mar 16. doi: 10.1007\/s13760-021-01652-y. Online ahead of print.<\/li>\n\n\n\n
          8. Premedication of hemin for eradication therapy of Helicobacter pylori<\/em> in patients with porphyria.<\/a>Takata T, Kokudo Y, Morishita A, Kume K, Yachida T, Kamada M, Kobara H, Deguchi K, Touge T, Masugata H, Masaki T. Clin Case Rep. <\/em><\/strong>2020 Dec 26;9(2):944-946. doi: 10.1002\/ccr3.3715. eCollection 2021 Feb.<\/li>\n<\/ol>\n\n\n\n

            2020<\/h4>\n\n\n\n
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            1. Long-term MRI findings of adult-onset neuronal intranuclear inclusion disease.<\/a>Tachi K, Takata T, Kume K, Sone J, Kobara H, Deguchi K, Kawakami H, Masaki T. Clin Neurol Neurosurg.<\/em><\/strong> 2021 Feb;201:106456. doi: 10.1016\/j.clineuro.2020.106456. Epub 2020 Dec 29.<\/li>\n\n\n\n
            2. Optineurin defects cause TDP43-pathology with autophagic vacuolar formation.<\/a> Kurashige T, Kuramochi M, Ohsawa R, Yamashita Y, Shioi G, Morino H, Kamada M, Ayaki T, Ito H, Sotomaru Y, Maruyama H, Kawakami H. Neurobiol Dis. <\/em><\/strong>2021 Jan;148:105215. doi: 10.1016\/j.nbd.2020.105215. Epub 2020 Dec 6.<\/li>\n\n\n\n
            3. Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel CaV<\/sub>3.1 caused by a mutation responsible for spinocerebellar ataxia.<\/a> Hara N, Morino H, Matsuda Y, Satoh K, Hashimoto K, Maruyama H, Kawakami H. Mol Brain.<\/em><\/strong> 2020 Nov 26;13(1):163. doi: 10.1186\/s13041-020-00700-7.<\/li>\n\n\n\n
            4. Kv11 (ether-\u00e0-go-go-related gene) voltage-dependent K+<\/sup> channels promote resonance and oscillation of subthreshold membrane potentials.<\/a> Matsuoka T, Yamasaki M, Abe M, Matsuda Y, Morino H, Kawakami H, Sakimura K, Watanabe M, Hashimoto K. J Physiol.<\/em><\/strong> 2021 Jan;599(2):547-569. doi: 10.1113\/JP280342. Epub 2020 Nov 18.<\/li>\n\n\n\n
            5. The first Japanese case of primary familial brain calcification caused by an MYORG variant.<\/a> Kume K, Takata T, Morino H, Matsuda Y, Ohsawa R, Tada Y, Kurashige T, Kawakami H. J Hum Genet.<\/em><\/strong> 2020 Oct;65(10):917-920. doi: 10.1038\/s10038-020-0779-x. Epub 2020 May 25.<\/li>\n\n\n\n
            6. Aggressive periodontitis and NOD2 variants.<\/a>Mizuno N, Kume K, Nagatani Y, Matsuda S, Iwata T, Ouhara K, Kajiya M, Takeda K, Matsuda Y, Tada Y, Ohsawa R, Morino H, Mihara K, Fujita T, Kawaguchi H, Shiba H, Kawakami H, Kurihara H. J Hum Genet.<\/em><\/strong> 2020 Oct;65(10):841-846. doi: 10.1038\/s10038-020-0777-z. Epub 2020 May 19.<\/li>\n\n\n\n
            7. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.<\/a> Kume K, Morino H, Miyamoto R, Matsuda Y, Ohsawa R, Kanaya Y, Tada Y, Kurashige T, Kawakami H. BMC Med Genet. <\/em><\/strong>2020 Mar 31;21(1):68. doi: 10.1186\/s12881-020-01002-4.<\/li>\n\n\n\n
            8. Optineurin regulates osteoblastogenesis through STAT1.<\/a>Mizuno N, Iwata T, Ohsawa R, Ouhara K, Matsuda S, Kajiya M, Matsuda Y, Kume K, Tada Y, Morino H, Yoshimoto T, Ueki Y, Mihara K, Sotomaru Y, Takeda K, Munenaga S, Fujita T, Kawaguchi H, Shiba H, Kawakami H, Kurihara H. Biochem Biophys Res Commun.<\/em><\/strong> 2020 May 14;525(4):889-894. doi: 10.1016\/j.bbrc.2020.03.028. Epub 2020 Mar 12.<\/li>\n\n\n\n
            9. Biallelic mutation of HSD17B4<\/em> induces middle age-onset spinocerebellar ataxia.<\/a> Matsuda Y, Morino H, Miyamoto R, Kurashige T, Kume K, Mizuno N, Kanaya Y, Tada Y, Ohsawa R, Yokota K, Shimozawa N, Maruyama H, Kawakami H. Neurol Genet.<\/em><\/strong> 2020 Jan 16;6(1):e396. doi: 10.1212\/NXG.0000000000000396. eCollection 2020 Feb.<\/li>\n\n\n\n
            10. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.<\/a> Tada Y, Kume K, Matsuda Y, Kurashige T, Kanaya Y, Ohsawa R, Morino H, Tabu H, Kaneko S, Suenaga T, Kakizuka A, Kawakami H. J Hum Genet.<\/em><\/strong> 2020 Apr;65(4):363-369. doi: 10.1038\/s10038-019-0717-y. Epub 2020 Jan 7.<\/li>\n<\/ol>\n\n\n\n

              2019<\/h4>\n\n\n\n
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              1. Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation.<\/a> Kurashige T, Morino H, Matsuda Y, Mukai T, Murao T, Toko M, Kume K, Ohsawa R, Torii T, Tokinobu H, Maruyama H, Kawakami H. J Neurol Neurosurg Psychiatry.<\/em><\/strong> 2020 Feb;91(2):220-222. doi: 10.1136\/jnnp-2019-321279. Epub 2019 Aug 20.<\/li>\n\n\n\n
              2. Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report.<\/a> Fujita K, Matsubara T, Miyamoto R, Sumikura H, Takeuchi T, Maruyama Saladini K, Kawarai T, Nodera H, Udaka F, Kume K, Morino H, Kawakami H, Hasegawa M, Kaji R, Murayama S, Izumi Y. BMC Neurol.<\/em><\/strong> 2019 Jul 18;19(1):168. doi: 10.1186\/s12883-019-1402-7.<\/li>\n\n\n\n
              3. Using global team science to identify genetic parkinson’s disease worldwide.<\/a> Vollstedt EJ, Kasten M, Klein C; MJFF Global Genetic Parkinson’s Disease Study Group. Ann Neurol. <\/em><\/strong>2019 Aug;86(2):153-157. doi: 10.1002\/ana.25514. Epub 2019 Jun 26.<\/li>\n\n\n\n
              4. C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8.<\/a> Kume K, Morino H, Komure O, Matsuda Y, Ohsawa R, Kurashige T, Kanaya Y, Tada Y, Kawakami H.<\/strong> J Neurol Sci.<\/strong> <\/em>2019 Jul 15;402:118-120. doi: 10.1016\/j.jns.2019.05.001. Epub 2019 May 9.<\/li>\n<\/ol>\n\n\n\n

                2018<\/h4>\n\n\n\n
                  \n
                1. Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy.<\/a> Matsubara T, Oda M, Takahashi T, Watanabe C, Tachiyama Y, Morino H, Kawakami H, Kaji R, Maruyama H, Murayama S, Izumi Y. Neuropathology.<\/em><\/strong> 2019 Feb;39(1):47-53. doi: 10.1111\/neup.12523. Epub 2018 Dec 3.<\/li>\n\n\n\n
                2. Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide.<\/a> Hara N, Nezu T, Kobatake K, Morino H, Kawakami H, Maruyama H. J Neurol Sci.<\/em><\/strong> 2019 Jan 15;396:119-120. doi: 10.1016\/j.jns.2018.11.013. Epub 2018 Nov 10.<\/li>\n\n\n\n
                3. Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis.<\/a> Izumi Y, Morino H, Miyamoto R, Matsuda Y, Ohsawa R, Kurashige T, Shimatani Y, Kaji R, Kawakami H. Geriatr Gerontol Int.<\/em><\/strong> 2018 Oct;18(10):1519-1520. doi: 10.1111\/ggi.13506.<\/li>\n\n\n\n
                4. RELATIVE BIOLOGICAL EFFECTIVENESS OF NEUTRONS DERIVED FROM THE EXCESS RELATIVE RISK MODEL WITH THE ATOMIC BOMB SURVIVORS DATA MANAGED BY HIROSHIMA UNIVERSITY.<\/a> Satoh K, Yasuda H, Kawakami H, Tashiro S. Radiat Prot Dosimetry.<\/em><\/strong> 2018 Aug 1;180(1-4):346-350. doi: 10.1093\/rpd\/ncx173.<\/li>\n\n\n\n
                5. Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations.<\/a> Ayaki T, Ito H, Komure O, Kamada M, Nakamura M, Wate R, Kusaka H, Yamaguchi Y, Li F, Kawakami H, Urushitani M, Takahashi R. J Neuropathol Exp Neurol.<\/em><\/strong> 2018 Feb 1;77(2):128-138. doi: 10.1093\/jnen\/nlx109.<\/li>\n<\/ol>\n\n\n\n

                  2017<\/h4>\n\n\n\n
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                  1. Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women.<\/a> Inoue N, Kawakami H, Yamamoto H, Ito C, Fujiwara S, Sasaki H, Kihara Y. Hypertens Res.<\/em><\/strong> 2017 Feb;40(2):207-211. doi: 10.1038\/hr.2016.123. Epub 2016 Sep 29.<\/li>\n\n\n\n
                  2. Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs.<\/a> Ishida Y, Kawakami H, Kitajima H, Nishiyama A, Sasai Y, Inoue H, Muguruma K. Cell Rep.<\/em><\/strong> 2017 Jan 24;18(4):1075-1076. doi: 10.1016\/j.celrep.2017.01.012.<\/li>\n\n\n\n
                  3. First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China.<\/a> Naito H, Takahashi T, Kamada M, Morino H, Yoshino H, Hattori N, Maruyama H, Kawakami H, Matsumoto M. PLoS One.<\/em><\/strong> 2017 May 19;12(5):e0177955. doi: 10.1371\/journal.pone.0177955. eCollection 2017.<\/li>\n\n\n\n
                  4. PLK1-mediated phosphorylation of WDR62\/MCPH2 ensures proper mitotic spindle orientation.<\/a> Miyamoto T, Akutsu SN, Fukumitsu A, Morino H, Masatsuna Y, Hosoba K, Kawakami H, Yamamoto T, Shimizu K, Ohashi H, Matsuura S. Hum Mol Genet. <\/em><\/strong>2017 Nov 15;26(22):4429-4440. doi: 10.1093\/hmg\/ddx330.<\/li>\n\n\n\n
                  5. Novel compound heterozygous mutations in the PARK2<\/em> gene identified in a Chinese pedigree with early-onset Parkinson’s disease.<\/a> Shi Y, Kawakami H, Zang W, Li G, Zhang J, Xu C. Brain Behav.<\/em><\/strong> 2017 Dec 19;8(1):e00901. doi: 10.1002\/brb3.901. eCollection 2018 Jan.<\/li>\n<\/ol>\n\n\n\n

                    2016<\/h4>\n\n\n\n
                      \n
                    1. Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis.<\/a> Nakazawa S, Oikawa D, Ishii R, Ayaki T, Takahashi H, Takeda H, Ishitani R, Kamei K, Takeyoshi I, Kawakami H, Iwai K, Hatada I, Sawasaki T, Ito H, Nureki O, Tokunaga F. Nat Commun.<\/em><\/strong> 2016 Aug 24;7:12547. doi: 10.1038\/ncomms12547.<\/li>\n\n\n\n
                    2. High Initial-dose Dependency of Cerebrovascular Disease Mortality among Female Survivors of the Hiroshima Atomic Bomb Exposed in Teens: A Cohort Study, 1970-2010.<\/a> Matsuba J, Otani K, Satoh K, Kawakami H, Ohtaki M. Hiroshima J Med Sci.<\/em><\/strong> 2016 Sep;65(2):35-43.<\/li>\n\n\n\n
                    3. High Excess Risk of Heart Disease Mortality among Hiroshima Atomic Bomb Male Survivors Exposed Near the Hypocenter.<\/a> Hara N, Satoh K, Otani K, Kawakami H, Ohtaki M. Hiroshima J Med Sci.<\/em><\/strong> 2016 Sep;65(2):45-51.<\/li>\n\n\n\n
                    4. Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs.<\/a> Ishida Y, Kawakami H, Kitajima H, Nishiyama A, Sasai Y, Inoue H, Muguruma K. Cell Rep.<\/em><\/strong> 2016 Nov 1;17(6):1482-1490. doi: 10.1016\/j.celrep.2016.10.026.<\/li>\n\n\n\n
                    5. Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis.<\/a> Nakazawa S, Oikawa D, Ishii R, Ayaki T, Takahashi H, Takeda H, Ishitani R, Kamei K, Takeyoshi I, Kawakami H, Iwai K, Hatada I, Sawasaki T, Ito H, Nureki O, Tokunaga F. Nat Commun.<\/em><\/strong> 2016 Aug 24;7:12547. doi: 10.1038\/ncomms12547.<\/li>\n<\/ol>\n\n\n\n

                      2015<\/h4>\n\n\n\n
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                      1. Self-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells.<\/a> Muguruma K, Nishiyama A, Kawakami H, Hashimoto K, Sasai Y. Cell Rep.<\/em><\/strong> 2015 Feb 3;10(4):537-50. doi: 10.1016\/j.celrep.2014.12.051. Epub 2015 Jan 29.<\/li>\n\n\n\n
                      2. Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis.<\/a> Gomez CM, Kawakami H. Neurology.<\/em><\/strong> 2015 Mar 17;84(11):1070-1. doi: 10.1212\/WNL.0000000000001372. Epub 2015 Feb 13.<\/li>\n\n\n\n
                      3. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.<\/a> Morino H, Matsuda Y, Muguruma K, Miyamoto R, Ohsawa R, Ohtake T, Otobe R, Watanabe M, Maruyama H, Hashimoto K, Kawakami H. Mol Brain.<\/em><\/strong> 2015 Dec 29;8:89. doi: 10.1186\/s13041-015-0180-4.<\/li>\n<\/ol>\n\n\n\n

                        2014<\/h4>\n\n\n\n

                        \uff21\uff0e\u539f\u3000\u8457<\/h4>\n\n\n\n
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                        1. Homma T*1,3, Nagaoka U*1, Kawata A*1, Mochizuki Y*1,2, Kawakami H, Maruyama H*4, Matsubara S*1, Komori T*1.\uff08*1\u6771\u4eac\u90fd\u7acb\u795e\u7d4c\u75c5\u9662\uff0c*2\u6771\u4eac\u90fd\u7acb\u5317\u7642\u80b2\u533b\u7642\u30bb\u30f3\u30bf\u30fc\uff0c*3\u57fc\u7389\u5927\u5b66\uff0c*4\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1aAuthors’ reply to Drs M van Blitterswijk, R Rademakers and LH van den Berg. Neuropathol Appl Neurobiol. 2014 Apr;40(3):359-60.<\/li>\n\n\n\n
                        2. Mochizuki Y*1,3, Kawata A*1, Hashimoto T*1,4,5, Akiyama H*2, Kawakami H, Komori T*1, Oyanagi K*1,5, Mizutani T*1,6, Matsubara S*1.\uff08*1\u6771\u4eac\u90fd\u7acb\u795e\u7d4c\u75c5\u9662\uff0c*2\u6771\u4eac\u90fd\u533b\u5b66\u7dcf\u5408\u7814\u7a76\u6240\uff0c*3\u6771\u4eac\u90fd\u7acb\u5317\u7642\u80b2\u533b\u7642\u30bb\u30f3\u30bf\u30fc\uff0c*4\u7523\u696d\u533b\u79d1\u5927\u5b66\uff0c*5\u4fe1\u5dde\u5927\u5b66\uff0c*6\u6771\u4eac\u90fd\u7acb\u5e9c\u4e2d\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\uff09\uff1aAn autopsy case of familial amyotrophic lateral sclerosis with FUS R521G mutation. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Jun;15(3-4):305-8.<\/li>\n\n\n\n
                        3. Hayashi Y*1, Nabeshima Y*1, Kobayashi K*2, Miyakawa T*1, Tanda K*1, Takao K*1, Suzuki H*2, Esumi E*3, Noguchi S*4, Matsuda Y, Sasaoka T*3, Noda T*5, Miyazaki J*6, Mishina M*7, Funabiki K*1, Nabeshima Y*1. \uff08*1\u4eac\u90fd\u5927\u5b66\uff0c*2\u65e5\u672c\u533b\u79d1\u5927\u5b66\uff0c\uff0c*3\u56fd\u7acb\u7cbe\u795e\u30fb\u795e\u7d4c\u30bb\u30f3\u30bf\u30fc\uff0c*4\u682a\u5f0f\u4f1a\u793e\u660e\u6cbb\uff0c*5\u304c\u3093\u7814\u7a76\u4f1a\uff0c*6\u5927\u962a\u5927\u5b66\uff0c*7\u6771\u4eac\u5927\u5b66\uff09\uff1aEnhanced stability of hippocampal place representation caused by reduced magnesium block of NMDA receptors in the dentate gyrus. Mol Brain, 2014 Jun;4(7):44-60.<\/li>\n\n\n\n
                        4. Yagi R*1, Miyamoto R, Morino H, Izumi Y*2, Kuramochi M, Kurashige T*3, Maruyama H, Mizuno N*1, Kurihara H*1, Kawakami H.\uff08*1\u6b6f\u5468\u75c5\u614b\u5b66\uff0c*2\u5fb3\u5cf6\u5927\u5b66\u5927\u5b66\u9662\u30d8\u30eb\u30b9\u30d0\u30a4\u30aa\u30b5\u30a4\u30a8\u30f3\u30b9\u7814\u7a76\u90e8\u81e8\u5e8a\u795e\u7d4c\u79d1\u5b66\u5206\u91ce\uff0c*3\u8133\u795e\u7d4c\u5185\u79d1\u5b66\uff09\uff1aDetecting gene mutations in Japanese Alzheimer’s patients by semiconductor sequencing. Neurobiol Aging. 2014 Jul;35(7):1780.e1-5.<\/li>\n\n\n\n
                        5. Mochizuki Y*1,3, Kawata A*1, Maruyama H*6, Homma T*1,4, Watabe K*2, Kawakami H, Komori T*1, Mizutani T*1,5, Matsubara S*1\uff08*1\u6771\u4eac\u90fd\u7acb\u795e\u7d4c\u75c5\u9662\uff0c*2\u6771\u4eac\u90fd\u533b\u5b66\u7dcf\u5408\u7814\u7a76\u6240\uff0c*3\u6771\u4eac\u90fd\u7acb\u5317\u7642\u80b2\u533b\u7642\u30bb\u30f3\u30bf\u30fc\uff0c*4\u65e5\u672c\u5927\u5b66\uff0c*5\u6771\u4eac\u90fd\u7acb\u5e9c\u4e2d\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\uff0c*6\u8133\u795e\u7d4c\u5185\u79d1\u5b66\uff09\uff1aA Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state. Neuropathology. 2014 Oct;34(5):504-9.<\/li>\n\n\n\n
                        6. Morino H, Pierce SB*1, Matsuda Y, Walsh T*1, Ohsawa R, Newby M*1, Hiraki-Kamon K, Kuramochi M, Lee MK*1, Klevit RE*1, Martin A*1, Maruyama H*2, King MC*1, Kawakami H.\uff08*1\u30ef\u30b7\u30f3\u30c8\u30f3\u5927\u5b66\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\u5b66\uff09\uff1aMutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology. 2014 Nov 25;83(22):2054-61.<\/li>\n\n\n\n
                        7. Muguruma K*1, Nishiyama A*1, Kawakami H, Hashimoto K*2, Sasai Y*1.\uff08*1\u7406\u5316\u5b66\u7814\u7a76\u6240\u591a\u7d30\u80de\u30b7\u30b9\u30c6\u30e0\u5f62\u6210\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\uff0c*2\u795e\u7d4c\u751f\u7406\u5b66\uff09\uff1aSelf-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells. Cell Rep. 2015 Feb 3;10(4):537-50.<\/li>\n<\/ol>\n\n\n\n

                          \uff22\uff0e\u5b66\u4f1a\u767a\u8868<\/h4>\n\n\n\n
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                          1. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u5e73\u6728\u5553\u5b50\uff0c\u5009\u91cd\u6bc5\u5fd7*1\uff0c\u548c\u6cc9\u552f\u4fe1*2\uff0c\u5c71\u5d0e\u3000\u96c4*1\uff0c\u9ad8\u6a4b\u54f2\u4e5f*1\uff0c\u4e38\u5c71\u535a\u6587*1\uff0c\u4f0a\u6771\u79c0\u6587*3\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u8133\u795e\u7d4c\u5185\u79d1\u5b66\uff0c*2\u5fb3\u5cf6\u5927\u5b66\u5927\u5b66\u9662\u81e8\u5e8a\u795e\u7d4c\u5316\u5b66\u5206\u91ce\uff0c*3\u548c\u6b4c\u5c71\u770c\u7acb\u533b\u79d1\u5927\u5b66\u795e\u7d4c\u5185\u79d1\u5b66\uff09\uff1aMAPT\u306e\u65b0\u898f\u633f\u5165\u5909\u7570\u3092\u8a8d\u3081\u305fFTDP17\u306e2\u5bb6\u7cfb\uff0e\u7b2c55\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u798f\u5ca1\uff0c2014\/5\/21<\/li>\n\n\n\n
                          2. \u79cb\u6708\u771f\u7531\u7f8e*1\uff0c\u5c71\u4e0b\u535a\u53f2*1\uff0c\u690d\u6751\u5065\u543e*1\uff0c\u4e38\u5c71\u535a\u6587*2\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u4f0a\u6771\u79c0\u6587*1\uff0c\u9ad8\u6a4b\u826f\u8f14*1\uff08*1\u4eac\u90fd\u5927\u5b66\u5927\u5b66\u9662\u533b\u5b66\u7814\u7a76\u79d1\u795e\u7d4c\u5185\u79d1\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\u5b66\uff09\uff1aNF-\u03baB\u7d4c\u8def\u3092\u4ecb\u3057\u305fOptineurin\u306e\u30ce\u30c3\u30af\u30c0\u30a6\u30f3\u306b\u3088\u308b\u795e\u7d4c\u7d30\u80de\u6b7b\uff0e\u7b2c55\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u798f\u5ca1\uff0c2014\/5\/21<\/li>\n\n\n\n
                          3. \u91d1\u4e95\u96c5\u88d5*1\uff0c\u5bae\u672c\u4eae\u4ecb*2\uff0c\u6751\u7530\u4f73\u5b50*3\uff0c\u5411\u4e95\u6d0b\u5e73*1\uff0c\u5c71\u672c\u654f\u4e4b*1\uff0c\u548c\u6cc9\u552f\u4fe1*2\uff0c\u68b6\u3000\u9f8d\u5152*2\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u65b0\u5b85\u6cbb\u592b*4\uff0c\u5742\u672c\u3000\u5d07*1\uff0c\u6751\u7530\u7f8e\u7a42*1\uff08*1\u56fd\u7acb\u7cbe\u795e\u30fb\u795e\u7d4c\u533b\u7642\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\u75c5\u9662\u795e\u7d4c\u5185\u79d1\uff0c*2\u5fb3\u5cf6\u5927\u5b66\u5927\u5b66\u9662\u30d8\u30eb\u30b9\u30d0\u30a4\u30aa\u30b5\u30a4\u30a8\u30f3\u30b9\u7814\u7a76\u90e8\u81e8\u5e8a\u795e\u7d4c\u79d1\u5b66\u5206\u91ce\uff0c*3\u56fd\u7acb\u7cbe\u795e\u30fb\u795e\u7d4c\u533b\u7642\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\u75c5\u9662\u7cbe\u795e\u79d1\uff0c*4\u5927\u962a\u5e02\u7acb\u5927\u5b66\u5927\u5b66\u9662\u533b\u5b66\u7814\u7a76\u79d1\u767a\u9054\u5c0f\u5150\u533b\u5b66\u5206\u91ce\uff09\uff1a\u672c\u90a6\u521d\u304b\u3064\u65b0\u898f\u5909\u7570\u3092\u6709\u3059\u308bSepiapterin reductase(SPR)\u6b20\u640d\u75c7 \u306e1\u4f8b\uff0e\u7b2c55\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u798f\u5ca1\uff0c2014\/5\/21<\/li>\n\n\n\n
                          4. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u677e\u7530\u7531\u559c\u5b50\uff0c\u5e73\u6728\u5553\u5b50\uff0c\u5009\u91cd\u6bc5\u5fd7*1\uff0c\u548c\u6cc9\u552f\u4fe1*2\uff0c\u5c71\u5d0e\u3000\u96c4*1\uff0c\u9ad8\u6a4b\u54f2\u4e5f*1\uff0c\u4e38\u5c71\u535a\u6587*1\uff0c\u4f0a\u6771\u79c0\u6587*3\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u8133\u795e\u7d4c\u5185\u79d1\u5b66\uff0c*2\u5fb3\u5cf6\u5927\u5b66\u5927\u5b66\u9662\u30d8\u30eb\u30b9\u30d0\u30a4\u30aa\u30b5\u30a4\u30a8\u30f3\u30b9\u7814\u7a76\u90e8\u81e8\u5e8a\u795e\u7d4c\u79d1\u5b66\u5206\u91ce\uff0c*3\u548c\u6b4c\u5c71\u770c\u7acb\u533b\u79d1\u5927\u5b66\u795e\u7d4c\u5185\u79d1\u5b66\uff09\uff1aFTDP-17\u306e\u539f\u56e0\u3068\u306a\u308bMAPT\u306e\u65b0\u898f\u633f\u5165\u5909\u7570\u306e\u540c\u5b9a\uff0e\u7b2c37\u56de\u65e5\u672c\u795e\u7d4c\u79d1\u5b66\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0e\u795e\u5948\u5ddd\uff0c2014\/9\/11<\/li>\n\n\n\n
                          5. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u677e\u7530\u7531\u559c\u5b50\uff0c\u5927\u6fa4\u4eae\u4ecb\uff0c\u5e73\u6728\u5553\u5b50\uff0c\u5009\u91cd\u6bc5\u5fd7*1\uff0c\u548c\u6cc9\u552f\u4fe1*2\uff0c\u5c71\u5d0e\u3000\u96c4*1\uff0c\u9ad8\u6a4b\u54f2\u4e5f*1\uff0c\u9ad8\u5cf6\u660e\u5f66*3\uff0c\u6dfb\u7530\u7fa9\u884c*3\uff0c\u5bae\u5742\u77e5\u5b8f*4\uff0c\u6a0b\u53e3\u771f\u4eba*5\uff0c\u4f50\u539f\u6210\u5f66*5\uff0c\u9808\u539f\u54f2\u4e5f*5\uff0c\u5cf6\u7530\u3000\u6589*5\uff0c\u4f0a\u6771\u79c0\u6587*6\uff0c\u4e38\u5c71\u535a\u6587*1\uff08*1\u8133\u795e\u7d4c\u5185\u79d1\u5b66\uff0c*2\u5fb3\u5cf6\u5927\u5b66\u5927\u5b66\u9662\u30d8\u30eb\u30b9\u30d0\u30a4\u30aa\u30b5\u30a4\u30a8\u30f3\u30b9\u7814\u7a76\u90e8\u81e8\u5e8a\u795e\u7d4c\u79d1\u5b66\u5206\u91ce\uff0c*3\u56fd\u7acb\u9577\u5bff\u7814\u533b\u7642\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\u5206\u5b50\u57fa\u76e4\u7814\u7a76\u90e8\uff0c*4\u540c\u5fd7\u793e\u5927\u533b\u751f\u547d\u30b7\u30b9\u30c6\u30e0\u795e\u7d4c\u75c5\u7406\uff0c*5\u653e\u5c04\u7dda\u533b\u5b66\u7dcf\u5408\u7814\u7a76\u6240\u5206\u5b50\u30a4\u30e1\u30fc\u30b8\u30f3\u30b0\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\uff0c*6\u548c\u6b4c\u5c71\u770c\u7acb\u533b\u79d1\u5927\u5b66\u795e\u7d4c\u5185\u79d1\u5b66\uff09\uff1aFTDP-17\u306e\u539f\u56e0\u907a\u4f1d\u5b50MAPT\u306e\u65b0\u898f\u633f\u5165\u5909\u7570\u306e\u540c\u5b9a\u3068\u751f\u5316\u5b66\u7684\u89e3\u6790\uff0e\u7b2c57\u56de\u65e5\u672c\u795e\u7d4c\u5316\u5b66\u4f1a\u5927\u4f1a\uff0e\u5948\u826f\uff0c2014\/09\/30<\/li>\n\n\n\n
                          6. Hiroyuki Morino, Yukiko Matsuda, Ryosuke Ohsawa, Keiko Hiraki, Takashi Kurashige*1, Yuishin Izumi*2, Yu Yamazaki*1, Tetsuya Takahashi*1, Akihiko Takashima*3, Yoshiyuki Soeda*3, Tomohiro Miyasaka*4, Makoto Higuchi*5, Naruhiko Sahara*5, Tetsuya Suhara*5, Hitoshi Shimada*5, Hirofumi Maruyama*1, Hidefumi Ito*6, Hideshi Kawakami\uff08*1\u8133\u795e\u7d4c\u5185\u79d1\u5b66\uff0c*2\u5fb3\u5cf6\u5927\u5b66\u5927\u5b66\u9662\u30d8\u30eb\u30b9\u30d0\u30a4\u30aa\u30b5\u30a4\u30a8\u30f3\u30b9\u7814\u7a76\u90e8\u81e8\u5e8a\u795e\u7d4c\u79d1\u5b66\u5206\u91ce\uff0c*3\u56fd\u7acb\u9577\u5bff\u7814\u533b\u7642\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\u5206\u5b50\u57fa\u76e4\u7814\u7a76\u90e8\uff0c*4\u540c\u5fd7\u793e\u5927\u533b\u751f\u547d\u30b7\u30b9\u30c6\u30e0\u795e\u7d4c\u75c5\u7406\uff0c*5\u653e\u5c04\u7dda\u533b\u5b66\u7dcf\u5408\u7814\u7a76\u6240\u5206\u5b50\u30a4\u30e1\u30fc\u30b8\u30f3\u30b0\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\uff0c*6\u548c\u6b4c\u5c71\u770c\u7acb\u533b\u79d1\u5927\u5b66\u795e\u7d4c\u5185\u79d1\u5b66\uff09\uff1aA novel insertion mutation of MAPT causes FTDP-17 with distinct pathology. ASHG 64th Annual Meeting. San Diego, USA, 2014\/10\/20<\/li>\n\n\n\n
                          7. \u5009\u91cd\u6bc5\u5fd7*1,*2\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u57ce\u9593\u7d00\u4e4b*3\uff0c\u5c71\u5d0e\u96c4*1\uff0c\u9ad8\u6a4b\u54f2\u4e5f*1\uff0c\u6709\u5e83\u5149\u53f8*3\uff0c\u4e38\u5c71\u535a\u6587*1\uff0c\u4f0a\u6771\u79c0\u6587*4\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u677e\u672c\u660c\u6cf0*1(*1\u8133\u795e\u7d4c\u5185\u79d1\u5b66\uff0c*2\u770c\u7acb\u5e83\u5cf6\u75c5\u9662\u8133\u795e\u7d4c\u5185\u79d1\uff0c*3\u75c5\u7406\u8a3a\u65ad\u79d1\uff0c*4\u548c\u6b4c\u5c71\u770c\u7acb\u533b\u79d1\u5927\u5b66\u795e\u7d4c\u5185\u79d1)\uff1aMAPT\u306e\u65b0\u898f\u907a\u4f1d\u5b50\u5909\u7570\u3092\u8a8d\u3081\u305fFTDP-17\u306e\u4e00\u5256\u691c\u4f8b\uff0e\u7b2c42\u56de\u81e8\u5e8a\u795e\u7d4c\u75c5\u7406\u61c7\u8a71\u4f1a\uff0e\u548c\u6b4c\u5c71\uff0c2014\/11\/16<\/li>\n\n\n\n
                          8. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u677e\u7530\u7531\u559c\u5b50\uff0cSarah B Pierce*1\uff0c\u5e73\u6728\u5553\u5b50\uff0c\u4e38\u5c71\u535a\u6587*2\uff0cMary-Claire King*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1 Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\u5b66\uff09\uff1aPerrault\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50C10orf2\u306e\u5909\u7570\u306b\u3088\u308bmtDNA\u7dad\u6301\u6a5f\u69cb\u306e\u969c\u5bb3\uff0e\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u7b2c59\u56de\u5927\u4f1a\uff0e\u6771\u4eac\uff0c2014\/11\/20<\/li>\n<\/ol>\n\n\n\n

                            \uff23\uff0e\u305d\u306e\u4ed6<\/h4>\n\n\n\n
                              \n
                            1. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u677e\u7530\u7531\u559c\u5b50\uff0c\u5e73\u6728\u5553\u5b50\uff0c\u5927\u6fa4\u4eae\u4ecb\uff1a\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u306e\u7dad\u6301\u6a5f\u69cb\u306b\u95a2\u4e0e\u3059\u308bPerrault\u75c7\u5019\u7fa4\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\uff0e\u7b2c10\u56de\u5e83\u5cf6\u5927\u5b66\u30fb\u9577\u5d0e\u5927\u5b66\u9023\u643a\u7814\u7a76\u4e8b\u696d\u30ab\u30f3\u30d5\u30a1\u30e9\u30f3\u30b9\uff08\u5831\u544a\u66f8p51-54\uff09\uff0e\u9577\u5d0e\uff0c2014\/5\/31<\/li>\n\n\n\n
                            2. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u4e38\u5c71\u535a\u6587*1\uff0c\u5409\u6fa4\u660e\u751f\uff0c\u5009\u6301\u771f\u4eba\uff08*1\u8133\u795e\u7d4c\u5185\u79d1\u5b66\uff09\uff1aOptineurin\u907a\u4f1d\u5b50\u5909\u7570\u3092\u5c0e\u5165\u3057\u305fALS\u30e2\u30c7\u30eb\u30de\u30a6\u30b9\u306e\u89e3\u6790\uff0e\u7b2c29\u56de\u5e73\u621025\u5e74\u5ea6\u7814\u7a76\u52a9\u6210\u7814\u7a76\u767a\u8868\u4f1a\uff08\u5e73\u621025\u5e74\u5ea6\u55ab\u7159\u79d1\u5b66\u7814\u7a76\u8ca1\u56e3\u7814\u7a76\u5e74\u5831p.417-420\uff09\uff0e\u6771\u4eac\uff0c2014\/7\/15<\/li>\n\n\n\n
                            3. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u30aa\u30d7\u30c1\u30cb\u30e5\u30fc\u30ea\u30f3\u907a\u4f1d\u5b50\u7570\u5e38\u306b\u3088\u308b\u8133\u5185\u74b0\u5883\u306e\u5909\u5316\u3068\u795e\u7d4c\u5909\u6027\u306e\u95a2\u308f\u308a\u306e\u89e3\u660e\uff0e\u5e73\u621026\u5e74\u5ea6\u65b0\u5b66\u8853\u9818\u57df\u300c\u8133\u5185\u74b0\u5883\u300d\u590f\u306e\u30ef\u30fc\u30af\u30b7\u30e7\u30c3\u30d7\uff0e\u6771\u4eac\uff0c2014\/7\/24-25<\/li>\n\n\n\n
                            4. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u3092\u7528\u3044\u305f\u795e\u7d4c\u75be\u60a3\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50\u691c\u7d22\uff0e\u653e\u533b\u7814\u30bb\u30df\u30ca\u30fc\uff0c\u5343\u8449\uff0c2014\/8\/28<\/li>\n\n\n\n
                            5. \u68ee\u91ce\u8c4a\u4e4b\uff1aFTDP-17\u306e\u539f\u56e0\u907a\u4f1d\u5b50MAPT\u306e\u65b0\u898f\u633f\u5165\u5909\u7570\u306e\u540c\u5b9a\uff0e\u7b2c158\u56de\u539f\u533b\u7814\u30bb\u30df\u30ca\u30fc\uff0e\u5e83\u5cf6\uff0c2014\/9\/18<\/li>\n\n\n\n
                            6. \u677e\u7530\u7531\u559c\u5b50\uff1aPerrault\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50C10orf2\u306e\u5909\u7570\u306b\u3088\u308bmtDNA\u7dad\u6301\u6a5f\u69cb\u306e\u969c\u5bb3\uff0e\u7b2c161\u56de\u539f\u533b\u7814\u30bb\u30df\u30ca\u30fc\uff0e\u5e83\u5cf6\uff0c2014\/12\/18<\/li>\n\n\n\n
                            7. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aFTDP-17\u306e\u539f\u56e0\u907a\u4f1d\u5b50MAPT\u306e\u65b0\u898f\u633f\u5165\u5909\u7570\u306e\u540c\u5b9a\uff0e\u5e73\u621026\u5e74\u5ea6\u300c\u8133\u5185\u74b0\u5883\u300d\u51ac\u306e\u9818\u57df\u73ed\u4f1a\u8b70\uff0e\u5e83\u5cf6\uff0c2015\/1\/8<\/li>\n\n\n\n
                            8. \u5009\u6301\u771f\u4eba\uff0c\u5927\u6fa4\u4eae\u4ecb\uff0c\u5e73\u6728\u5553\u5b50\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e38\u5c71\u535a\u6587*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u8133\u795e\u7d4c\u5185\u79d1\u5b66\uff09\uff1a\u30aa\u30d7\u30c1\u30cb\u30e5\u30fc\u30ea\u30f3\u30ce\u30c3\u30af\u30a2\u30a6\u30c8\u30de\u30a6\u30b9\u306e\u4f5c\u6210\u3068\u8a55\u4fa1\uff0e\u5e73\u621026\u5e74\u5ea6\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306b\u95a2\u3059\u308b\u8abf\u67fb\u7814\u7a76\u73ed\u5206\u79d1\u73ed\u300c\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\uff08ALS\uff09\u65b0\u898f\u6cbb\u7642\u6cd5\u958b\u767a\u3092\u3081\u3056\u3057\u305f\u75c5\u614b\u89e3\u660e\u300d\u4f1a\u8b70\uff0e\u6771\u4eac\uff0c2015\/1\/30<\/li>\n\n\n\n
                            9. Hiroyuki Morino, Yukiko Matsuda, Keiko Hiraki, Hideshi Kawakami\uff1aNovel C10orf2 mutations cause Perrault syndrome. The 5th International Symposium of RIRBM. Hiroshima, 2015\/3\/2<\/li>\n<\/ol>\n\n\n\n

                              2013\u5e74\u5ea6<\/h4>\n\n\n\n

                              \uff21\uff0e\u539f\u3000\u8457<\/h4>\n\n\n\n
                                \n
                              1. Miyashiro A*1, Sugihara K, Kawarai T*1, Miyamoto R, Izumi Y*1, Morino H, Maruyama H, Orlacchio A*2, Kawakami H, Kaji R*1\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff0c*2\u30ed\u30fc\u30de\u5927\u5b66\uff09\uff1aOromandibular dystonia associated with SCA36. Mov Disord. 2013 Apr;28(4):558-9.<\/li>\n\n\n\n
                              2. Maruyama H, Kawakami H.\uff1aOptineurin and amyotrophic lateral sclerosis. Geriatr Gerontol Int. 2013 Jul;13(3):528-32.<\/li>\n\n\n\n
                              3. Maruyama H, Morino H, Miyamoto R, Murakami N*1, Hamano T*1, Kawakami H\uff08*1\u95a2\u897f\u96fb\u529b\u75c5\u9662\uff09\uff1aExome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia. Clin Genet. 2013 Apr 4.<\/li>\n\n\n\n
                              4. Takeda I*1, Takahashi T*1, Ueno H*1, Morino H, Ochi K*1, Nakamura T*1, Hosomi N*1, Kawakami H, Hashimoto K*2, Matsumoto M*1\uff08*1\u795e\u7d4c\u5185\u79d1\uff0c*2\u795e\u7d4c\u751f\u7406\u5b66\uff09\uff1aAutosomal recessive Andersen\u2013Tawil syndrome with a novel mutation L94P in Kir2.1. Neurol Clin Neurosci. 2013 Jul;1(4):131-7.<\/li>\n\n\n\n
                              5. \u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aOptineurin. \u8fbb\u7701\u6b21\u7de8\u300c\u3059\u3079\u3066\u304c\u308f\u304b\u308bALS\uff08\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\uff09\u30fb\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u75be\u60a3\u300d\u4e2d\u5c71\u66f8\u5e97\uff0cpp181-187\uff0c2013<\/li>\n\n\n\n
                              6. Ohsawa R, Seol J-H*1, Tyler JK*1 \uff08*1 The University of Texas MD Anderson Cancer Center\uff09\uff1aAt the intersection of non-coding transcription, DNA repair, chromatin structure, and cellular senescence. Front. Genet. 2013 4:136.<\/li>\n\n\n\n
                              7. Akizuki M*1, Yamashita H*1, Uemura K*1, Maruyama H, Kawakami H, Ito H*1, Takahashi R*1\uff08*1\u4eac\u90fd\u5927\u5b66\uff09\uff1aOptineurin suppression causes neuronal cell death via NF-\u03baB pathway. J Neurochem. 2013 Sep;126(6):699-704.<\/li>\n\n\n\n
                              8. Nakamura S*1, Wate R*1, Kaneko S*1, Ito H*2, Oki M*1, Tsuge A*1, Nagashima M*1, Asayama S*1, Fujita K*1, Nakamura M*1, Maruyama H, Kawakami H, Kusaka H*1\uff08*1\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff0c*2\u548c\u6b4c\u5c71\u770c\u7acb\u533b\u79d1\u5927\u5b66\uff09\uff1aAn autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation. Neuropathology. 2013 Jun 17.<\/li>\n\n\n\n
                              9. Kamada M*1,3, Izumi Y*1, Ayaki T*4, Nakamura M*5, Kagawa S*1, Kudo E*1, Sako W*1, Maruyama H, Nishida Y*2, Kawakami H, Ito H*4,6, Kaji R*1\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff0c*2\u4f0a\u6708\u75c5\u9662\uff0c*3\u9999\u5ddd\u5927\u5b66\uff0c*4\u4eac\u90fd\u5927\u5b66\uff0c*5\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff0c*6\u548c\u6b4c\u5c71\u770c\u7acb\u533b\u79d1\u5927\u5b66\uff09\uff1aClinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation. Neuropathology. 2013 Jul 29.<\/li>\n\n\n\n
                              10. Homma T*1,2, Nagaoka U*1, Kawata A*1, Mochizuki Y*1,3, Kawakami H, Maruyama H, Matsubara S*1, Komori T*1\uff08*1\u6771\u4eac\u90fd\u7acb\u795e\u7d4c\u75c5\u9662\uff0c*2\u57fc\u7389\u533b\u79d1\u5927\u5b66\uff0c*3\u6771\u4eac\u90fd\u7acb\u5317\u7642\u80b2\u533b\u7642\u30bb\u30f3\u30bf\u30fc\uff09\uff1aNeuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP. Neuropathol Appl Neurobiol. 2013 Oct 9.<\/li>\n\n\n\n
                              11. Miyamoto R*1,2, Koizumi H*1,3, Morino H, Kawarai T*1, Maruyama H, Mukai Y*2,3, Miyashiro A*1,2, Sako W*4, Izumi Y*1, Kawakami H, Kaji R*1,2\uff08*1\u6771\u4eac\u90fd\u7acb\u795e\u7d4c\u75c5\u9662\uff0c*2\u533b\u4ec1\u4f1a\u6b66\u7530\u7dcf\u5408\u75c5\u9662\uff0c*3\u56fd\u7acb\u7cbe\u795e\u30fb\u795e\u7d4c\u533b\u7642\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\uff0c*4\u30d5\u30a1\u30a4\u30f3\u30b9\u30bf\u30a4\u30f3\u533b\u5b66\u7814\u7a76\u6240\uff09\uff1aDYT6 in Japan-genetic screening and clinical characteristics of the patients. Mov Disord. 2013 Nov 13.<\/li>\n\n\n\n
                              12. Homma T*1,2, Nagaoka U*1, Kawata A*1, Mochizuki Y*1,3, Kawakami H, Maruyama H, Matsubara S*1, Komori T*1\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff0c*2\u57fc\u7389\u533b\u79d1\u5927\u5b66\uff0c*3\u6771\u4eac\u90fd\u7acb\u5317\u7642\u80b2\u533b\u7642\u30bb\u30f3\u30bf\u30fc\uff09\uff1aAuthors’ Reply to Drs van Blitterswijk M, Rademakers R and van den Berg LH. Neuropathol Appl Neurobiol. 2013 Dec 5.<\/li>\n\n\n\n
                              13. Kamon M*1,2, Katano M*1, Hiraki-Kamon K*1,2, Hishida T*1, Nakachi Y*1, Mizuno Y*1, Okazaki Y*1, Suzuki A*1, Hirasaki M*1, Ueda A*1, Nishimoto M*1, Kato H*1, Okuda A*1,2\uff08*1\u57fc\u7389\u533b\u79d1\u5927\u5b66\uff0c*2CREST\uff09\uff1aIdentification of Ccr4-Not Complex Components as Regulators of Transition from Partial to Genuine Induced Pluripotent Stem Cells. Stem Cells Dev. 2013 Dec 9.<\/li>\n\n\n\n
                              14. Hirasaki M*1, Hiraki-Kamon K*1, Kamon M*1, Suzuki A*1, Katano M*1, Nishimoto M*1, Okuda A*1,2\uff08*1\u57fc\u7389\u533b\u79d1\u5927\u5b66\uff0c*2CREST\uff09\uff1aStriking similarity in the gene expression levels of individual Myc module members among ESCs, EpiSCs, and partial iPSCs. PLoS One. 2013 Dec 26;8(12):e83769<\/li>\n\n\n\n
                              15. Morino H, Miyamoto R, Ohnishi S*1, Maruyama H, Kawakami H\uff08*1\u30e9\u30dd\u30fc\u30eb\u4f1a\u7530\u8fba\u8133\u795e\u7d4c\u5916\u79d1\u75c5\u9662\uff09\uff1aExome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. BMC Neurol. 2014 Jan 7;14(1):5.<\/li>\n<\/ol>\n\n\n\n

                                \uff22\uff0e\u5b66\u4f1a\u767a\u8868<\/h4>\n\n\n\n
                                  \n
                                1. \u5ddd\u6d6a\u6587*1\uff0c\u6c38\u4e95\u771f\u8cb4\u5b50*1\uff0c\u65e9\u5ddd\u82f1\u898f*1,2\uff0c\u4ec1\u5e73\u53cb\u5b50*1,2\uff0c\u6c34\u91ce\u7f8e\u90a6*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u897f\u5c71\u548c\u5229*1\uff08*1\u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8\u795e\u7d4c\u5185\u79d1\u3001*2\u5317\u91cc\u5927\u5b66\u5bc4\u4ed8\u8b1b\u5ea7\u795e\u7d4c\u518d\u751f\u533b\u7642\u5b66\uff09\uff1aAAV1\u3092\u7528\u3044\u305f\u5909\u7570Optineurin\u767a\u73feALS\u30e2\u30c7\u30eb\u306e\u4f5c\u88fd\uff0e\u7b2c54\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2013\/5\/30<\/li>\n\n\n\n
                                2. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u5bae\u672c\u4eae\u4ecb\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aPerrault\u75c7\u5019\u7fa4\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50\uff0e\u7b2c54\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2013\/5\/31<\/li>\n\n\n\n
                                3. \u548c\u6cc9\u552f\u4fe1*1\uff0c\u5bae\u672c\u4eae\u4ecb\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u5409\u6fa4\u660e\u751f\uff0c\u897f\u4e2d\u548c\u4eba*2\uff0c\u5b87\u9ad8\u4e0d\u53ef\u601d*2\uff0c\u4e80\u5c71\u6b63\u90a6*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff0c*2\u4f4f\u53cb\u75c5\u9662\uff09\uff1a\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3067\u78ba\u8a8d\u3057\u305fSYNE1\u5909\u7570\u306b\u3088\u308b\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7\u306e\u81e8\u5e8a\u50cf\uff0e\u7b2c54\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2013\/5\/31<\/li>\n\n\n\n
                                4. \u938c\u7530\u6b63\u7d00*1\uff0c\u6c60\u7530\u548c\u4ee3*1\uff0c\u4e45\u7c73\u5e83\u5927*2\uff0c\u6d66\u4e95\u7531\u5149*2\uff0c\u51fa\u53e3\u4e00\u5fd7*2\uff0c\u5ce0\u54f2\u7537*3\uff0c\u5bae\u672c\u4eae\u4ecb\uff0c\u6749\u539f\u52dd\u5ba3\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u9999\u5ddd\u5927\u5b66\u533b\u5b66\u90e8\u795e\u7d4c\u96e3\u75c5\u8b1b\u5ea7\uff0c*2\u9999\u5ddd\u5927\u5b66\u533b\u5b66\u90e8\u6d88\u5316\u5668\u795e\u7d4c\u5185\u79d1\uff0c*3\u9999\u5ddd\u5927\u5b66\u533b\u5b66\u90e8\u770b\u8b77\u5b66\u79d1\u5065\u5eb7\u79d1\u5b66\uff09\uff1aVCP\u5909\u7570\u3092\u8a8d\u3081\u305fMND+IBM\u306e\u81e8\u5e8a\u50cf\u3068\u5bb6\u65cf\u6027ALS\u306b\u304a\u3051\u308bVCP\u5909\u7570\u306e\u983b\u5ea6\uff0e\u7b2c54\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2013\/5\/31<\/li>\n\n\n\n
                                5. \u6749\u539f\u52dd\u5ba3\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5bae\u672c\u4eae\u4ecb\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e0a\u91ce\u5f18\u8cb4*1\uff0c\u677e\u672c\u660c\u6cf0*1\uff0c\u5317\u53e3\u6d69\u53f2*2\uff0c\u96ea\u7af9\u57fa\u5f18*3\uff0c\u6771\u9756\u4eba*4\uff0c\u897f\u4e2d\u548c\u4eba*5\uff0c\u7e54\u7530\u96c5\u4e5f*6\uff0c\u548c\u6cc9\u552f\u4fe1*7\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u8133\u795e\u7d4c\u5185\u79d1\uff0c*2\u5009\u6577\u4e2d\u592e\u75c5\u9662\uff0c*3\u4f50\u8cc0\u5927\u5b66\uff0c*4\u59eb\u8def\u4e2d\u592e\u75c5\u9662\uff0c*5\u4f4f\u53cb\u75c5\u9662\uff0c*6\u30d3\u30cf\u30fc\u30e9\u82b1\u306e\u91cc\u75c5\u9662\uff0c*7\u5fb3\u5cf6\u5927\u5b66\uff09\uff1a\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c736\u578b\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u304a\u3088\u3073\u65e5\u672c\u4eba\u5931\u8abf\u75c7\u60a3\u80052121\u4eba\u306e\u75c5\u578b\u5225\u691c\u8a0e\uff0e\u7b2c54\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2013\/6\/1<\/li>\n\n\n\n
                                6. \u516b\u6728\u4eae\u4e00*1\uff0c\u5bae\u672c\u4eae\u4ecb\uff0c\u548c\u6cc9\u552f\u4fe1*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u6817\u539f\u82f1\u898b*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u6b6f\u5468\u75c5\u614b\u5b66\uff0c*2\u5fb3\u5cf6\u5927\u5b66\uff09\uff1a\u5bb6\u65cf\u6027\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u75c5\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306eIon PGM\u3092\u7528\u3044\u305f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff0e\u7b2c55\u56de\u65e5\u672c\u8001\u5e74\u533b\u5b66\u4f1a\u5b66\u8853\u96c6\u4f1a\uff0c\u5927\u962a\uff0c2013\/6\/6<\/li>\n\n\n\n
                                7. Kawakami H\uff0cMorino H\uff0cMiyamoto R\uff0cMaruyama H\uff1aNovel C10orf2 mutations cause Perrault syndrome\uff0eAmerican Society of Human Genetics 63rd Annual Meeting\uff0cBoston, USA\uff0c2013\/10\/23<\/li>\n\n\n\n
                                8. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u5bae\u672c\u4eae\u4ecb\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aPerrault\u75c7\u5019\u7fa4\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50\uff0e\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u7b2c58\u56de\u5927\u4f1a\uff0c\u4ed9\u53f0\uff0c2013\/11\/22<\/li>\n\n\n\n
                                9. \u5e73\u6728\u5553\u5b50\uff0c\u8239\u5c71\u9759\u9999*1\uff0c\u68ee\u5c71\u3000\u967d*1,2\uff0c\u6804\u5fb3\u52dd\u5149*3\uff0cThierry Forn\u00e9*4\uff0c\u8352\u6728\u654f\u4e4b*5\uff0c\u5ca1\u5d0e\u5eb7\u53f8*1\uff0c\u6e05\u6fa4\u79c0\u5b54*3\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u5965\u7530\u6676\u5f66*1\uff0c\u52a0\u85e4\u82f1\u653f*1\uff08*1\u57fc\u7389\u533b\u79d1\u5927\u5b66\uff0c*2\u85e4\u7530\u4fdd\u5065\u885b\u751f\u5927\u5b66\uff0c*3\u9ad8\u77e5\u5927\u5b66\uff0c*4Institut de G\u00e9n\u00e9tique Mol\u00e9culaire de Montpellier\uff0c*5\u56fd\u7acb\u7cbe\u795e\u30fb\u795e\u7d4c\u533b\u7642\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\uff09\uff1aTet1\u306f\u30d2\u30c8iPS\u7d30\u80de\u306e\u52b9\u7387\u7684\u306a\u5206\u5316\u306b\u5fc5\u9808\u3067\u3042\u308b\uff0e\u7b2c13\u56de\u65e5\u672c\u518d\u751f\u533b\u7642\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u4eac\u90fd\uff0c2014\/3\/4<\/li>\n<\/ol>\n\n\n\n

                                  \uff23\uff0e\u305d\u306e\u4ed6<\/h4>\n\n\n\n
                                    \n
                                  1. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1a\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\u907a\u4f1d\u6027\u75be\u60a3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\uff0e\u7b2c9\u56de\u5e83\u5cf6\u5927\u5b66\u30fb\u9577\u5d0e\u5927\u5b66\u9023\u643a\u7814\u7a76\u4e8b\u696d\u30ab\u30f3\u30d5\u30a1\u30e9\u30f3\u30b9\uff08\u5831\u544a\u66f8p.73-76\uff09\uff0e\u5e83\u5cf6, 2013\/6\/1<\/li>\n\n\n\n
                                  2. \u5927\u7027\u6148\uff0c\u51a8\u7530\u54f2\u6cbb*1\uff0c\u5927\u8c37\u656c\u5b50\uff0c\u4f50\u85e4\u88d5\u54c9\uff0c\u539f\u61b2\u884c\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u7530\u4ee3\u8061\uff0c\u661f\u6b63\u6cbb\uff0c\u5408\u539f\u4e00\u5e78*2\uff0c\u4f50\u85e4\u5065\u4e00\uff08*1\u770c\u7acb\u5e83\u5cf6\u5927\u5b66\uff0c*2\u6771\u4eac\u5927\u5b66\u751f\u7523\u6280\u8853\u7814\u7a76\u6240\uff09\uff1a\u5e83\u5cf6\u5927\u5b66\u539f\u7206\u88ab\u7206\u8005\u30b3\u30db\u30fc\u30c8\u30c7\u30fc\u30bf\u306b\u304a\u3051\u308b\u56fa\u5f62\u304c\u3093\u6b7b\u4ea1\u5371\u967a\u5ea6\u306e\u521d\u671f\u653e\u5c04\u7dda\u91cf\u4f9d\u5b58\u6027\u304a\u3088\u3073\u7279\u7570\u7684\u306a\u88ab\u7206\u6642\u5e74\u9f62\u30fb\u88ab\u7206\u8ddd\u96e2\u4f9d\u5b58\u6027\u306b\u3064\u3044\u3066\uff0e\u7b2c54\u56de\u539f\u5b50\u7206\u5f3e\u5f8c\u969c\u5bb3\u7814\u7a76\u4f1a\uff0e\u5e83\u5cf6\uff0c2013\/6\/2<\/li>\n\n\n\n
                                  3. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5409\u6fa4\u660e\u751f\uff1aOptineurin\u907a\u4f1d\u5b50\u5909\u7570\u3092\u5c0e\u5165\u3057\u305fALS\u30e2\u30c7\u30eb\u30de\u30a6\u30b9\u306e\u89e3\u6790\uff0e\u7b2c28\u56de\u5e73\u621024\u5e74\u5ea6\u7814\u7a76\u52a9\u6210\u7814\u7a76\u767a\u8868\u4f1a\uff08\u5e73\u621024\u5e74\u5ea6\u55ab\u7159\u79d1\u5b66\u7814\u7a76\u8ca1\u56e3\u7814\u7a76\u5e74\u5831p.403-407\uff09\uff0e\u6771\u4eac\uff0c2013\/7\/23<\/li>\n\n\n\n
                                  4. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u5bae\u672c\u4eae\u4ecb\uff0c\u516b\u6728\u4eae\u4e00*1\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5fb3\u5143\u4e00\u6a39*2\uff0c\u91cc\u4e95\u6589*3\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u6b6f\u5468\u75c5\u614b\u5b66\uff0c*2\u77f3\u5207\u751f\u559c\u75c5\u9662\uff0c*3\u5317\u91ce\u75c5\u9662\uff09\uff1a\u767d\u8cea\u8133\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50CLCN2\u306e\u65b0\u898f\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u306e\u540c\u5b9a\uff0e\u5e73\u621025\u5e74\u5ea6\u300c\u8133\u5185\u74b0\u5883\u300d\u590f\u306e\u9818\u57df\u73ed\u4f1a\u8b70\uff0e\u4eac\u90fd\uff0c2013\/8\/29<\/li>\n\n\n\n
                                  5. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u516b\u6728\u4eae\u4e00*1\uff0c\u677e\u7530\u7531\u559c\u5b50\uff0c\u6c34\u91ce\u667a\u4ec1*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u6b6f\u5468\u75c5\u614b\u5b66\uff09\uff1a\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u75c5\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff0eNGS\u73fe\u5834\u306e\u4f1a\u7b2c\u4e09\u56de\u7814\u7a76\u4f1a\uff0e\u795e\u6238\uff0c2013\/9\/4-5<\/li>\n\n\n\n
                                  6. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aPerrault\u75c7\u5019\u7fa4\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\uff0e\u5e73\u621025\u5e74\u5ea6\u300c\u8133\u5185\u74b0\u5883\u300d\u51ac\u306e\u9818\u57df\u73ed\u4f1a\u8b70\uff0e\u6771\u4eac\uff0c2014\/1\/9<\/li>\n\n\n\n
                                  7. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u5e73\u6728\u5553\u5b50\uff0c\u5927\u6fa4\u4eae\u4ecb\uff0c\u9234\u6728\u79c0\u898f*1\uff0c\u5409\u6fa4\u660e\u751f\uff0c\u5009\u6301\u771f\u4eba\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u548c\u6cc9\u552f\u4fe1*2\uff0c\u68b6\u9f8d\u5152*2\uff0c\u52a0\u85e4\u82f1\u653f*3\uff0c\u4e38\u5c71\u535a\u6587*4\uff08*1\u5e83\u5cf6\u6587\u6559\u5927\u5b66\u4eba\u9593\u79d1\u5b66\u90e8\uff0c*2\u5fb3\u5cf6\u5927\u5b66\u5927\u5b66\u9662\u81e8\u5e8a\u795e\u7d4c\u79d1\u5b66\u5206\u91ce\uff0c*3\u57fc\u7389\u533b\u79d1\u5927\u5b66\u30b2\u30ce\u30e0\u533b\u5b66\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\uff0c*4\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1aOPTN-ALS \u60a3\u8005\u7531\u6765iPS\u7d30\u80de\u7814\u7a76\u306b\u5411\u3051\u3066\uff0e\u5e73\u621025\u5e74\u5ea6\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306b\u95a2\u3059\u308b\u8abf\u67fb\u7814\u7a76\u73ed\u5206\u79d1\u73ed\u300c\u75c5\u614b\u306b\u6839\u3056\u3057\u305fALS\u306e\u65b0\u898f\u6cbb\u7642\u6cd5\u958b\u767a\u300d\u4f1a\u8b70\uff08\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306b\u95a2\u3059\u308b\u8abf\u67fb\u7814\u7a76\u73ed\u5206\u79d1\u73ed\u300c\u75c5\u614b\u306b\u6839\u3056\u3057\u305fALS\u306e\u65b0\u898f\u6cbb\u7642\u6cd5\u958b\u767a\u300d\u5e73\u621025\u5e74\u5ea6\u7814\u7a76\u5831\u544a\u66f8p.19-20\uff09\uff0e\u6771\u4eac\uff0c2014\/1\/17<\/li>\n\n\n\n
                                  8. Morino H\uff0cMiyamoto R\uff0cMaruyama H\uff0cKawakami H\uff1aNovel Causative Gene of Perrault Syndrome. The 4th International Symposium of RIRBM\uff0e\u5e83\u5cf6\uff0c2014\/2\/13<\/li>\n<\/ol>\n\n\n\n

                                    2012\u5e74\u5ea6<\/h4>\n\n\n\n

                                    \uff21\uff0e\u539f\u3000\u8457<\/h4>\n\n\n\n
                                      \n
                                    1. T Tonda, K Satoh, K Otani, Y Sato, H Maruyama, H Kawakami, S Tashiro, M Hoshi, M Otaki: Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data. Radiation and Environmental Biophysics 51, 133-141, 2012.<\/li>\n\n\n\n
                                    2. \u51a8\u7530\u54f2\u6cbb\uff0c\u4f50\u85e4\u5065\u4e00\uff0c\u5927\u8c37\u656c\u5b50\uff0c\u4f50\u85e4\u88d5\u54c9\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u7530\u4ee3\u8061\uff0c\u661f\u6b63\u6cbb\uff0c\u5927\u7027\u6148\uff1a\u5e83\u5cf6\u539f\u7206\u88ab\u7206\u8005\u30b3\u30db\u30fc\u30c81970\u301c2010\u5e74\u306b\u304a\u3051\u308b\u30ea\u30b9\u30af\u5730\u56f3\u306e\u63a8\u5b9a\uff0c\u5e83\u5cf6\u533b\u5b66 65, 255-258, 2012.<\/li>\n\n\n\n
                                    3. K Sugihara, H Maruyama, H Morino, R Miyamoto, H Ueno*1, M Matsumoto*1, R Kaji*2, H Kitaguchi*3, M Yukitake*4, Y Higashi*5, K Nishinaka*6, M Oda*7, Y Izumi*2, H Kawakami (*1\u8133\u795e\u7d4c\u5185\u79d1\uff0c*2\u5fb3\u5cf6\u5927\u5b66\uff0c*3\u5009\u6577\u4e2d\u592e\u75c5\u9662\uff0c*4\u4f50\u8cc0\u5927\u5b66\uff0c*5\u59eb\u8def\u4e2d\u592e\u75c5\u9662\uff0c*6\u4f4f\u53cb\u75c5\u9662\uff0c*7\u30d3\u30cf\u30fc\u30e9\u82b1\u306e\u91cc\u75c5\u9662): The clinical characteristics of spinocerebellar ataxia 36: A study of 2,121 Japanese ataxia patients. Movement Disorders 27,1158-1163, 2012.<\/li>\n\n\n\n
                                    4. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u5409\u6fa4\u660e\u751f\uff1aOptineurin\u306e\u6a5f\u80fd\u3068\u75c5\u614b\uff0cMedical Science Digest 38\uff0c376-377\uff0c2012.<\/li>\n\n\n\n
                                    5. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u3068\u907a\u4f1d\u5b50\uff0cBIO Clinica 27, 1034-1037, 2012<\/li>\n\n\n\n
                                    6. \u4e38\u5c71\u535a\u6587\uff1aOptineurin\u5909\u7570ALS\u306e\u767a\u898b\uff0cMedical Science Digest 38\uff0c471-473\uff0c2012.<\/li>\n\n\n\n
                                    7. K Bulayeva*1, T Lencz*2, S Glatt*3, T Takumi*4, F Gurgenova*1, H Kawakami, O Bulayeva*1 (*1Russian Academy of Sciences, *2Zucker Hillside Hospital, *3SUNY Upstate Medical University, *4Laboratory of Integrative Bioscience): Mapping genes related to early onset major depressive disorder in Dagestan genetic isolates. Turkish Journal of Psychiatry 23, 161-170, 2012.<\/li>\n\n\n\n
                                    8. Y Izumi*1, R Miyamoto, H Morino, A Yoshizawa, K Nishinaka*2, F Udaka*2, M Kameyama*2, H Maruyama, H Kawakami (*1\u5fb3\u5cf6\u5927\u5b66\uff0c*2\u4f4f\u53cb\u75c5\u9662): Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Neurology 80, 600-601, 2013.<\/li>\n\n\n\n
                                    9. \u5bae\u5730\u9686\u53f2*1\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5c0f\u6797\u6b63\u592b*2\uff0c\u677e\u672c\u660c\u6cf0*1\uff08*1\u8133\u795e\u7d4c\u5185\u79d1\uff0c*2\u5c0f\u5150\u79d1\uff09\uff1a\u5728\u5b85\u4eba\u5de5\u547c\u5438\u5668\u88c5\u7740\u60a3\u8005\u306e\u707d\u5bb3\u6642\u5bfe\u5fdc\uff0c\u5c0f\u5150\u5185\u79d1 45, 116-120\uff0c2013.<\/li>\n\n\n\n
                                    10. H Maruyama, H Morino, Y Izumi*1, K Noda*2, H Kawakami\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff0c*2\u6771\u5e83\u5cf6\u533b\u7642\u30bb\u30f3\u30bf\u30fc\uff09:Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system. Am J Neurodegener Dis, 2, 35-39, 2013<\/li>\n<\/ol>\n\n\n\n

                                      \uff22\uff0e\u5b66\u4f1a\u767a\u8868<\/h4>\n\n\n\n
                                        \n
                                      1. \u4e38\u5c71\u535a\u6587\uff0c\u4f0a\u6771\u79c0\u6587*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u4eac\u90fd\u5927\u5b66\uff09\uff1a\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a2011\u5e74\u5ea6\u5b66\u4f1a\u8cde\u53d7\u8cde\u8005\u62db\u5f85\u8b1b\u6f14\u300c\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50optineurin\u306e\u540c\u5b9a\u300d\uff0e\u7b2c53\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2012\/5\/23<\/li>\n\n\n\n
                                      2. \u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u8a8d\u77e5\u75c7\u5404\u75c5\u578b\u306e\u982d\u90e8MRI\u306b\u304a\u3051\u308b\u5fae\u5c0f\u51fa\u8840\u306e\u983b\u5ea6\u306b\u95a2\u3059\u308b\u691c\u8a0e\uff0e\u7b2c53\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2012\/5\/24<\/li>\n\n\n\n
                                      3. \u6749\u539f\u52dd\u5ba3\uff0c\u5bae\u672c\u4eae\u4ecb\uff0c\u938c\u7530\u6b63\u7d00\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aALS\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff0e\u7b2c53\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2012\/5\/25<\/li>\n\n\n\n
                                      4. \u548c\u6cc9\u552f\u4fe1*1\uff0c\u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u5065\u5e38\u9ad8\u9f62\u8005\u3092\u5bfe\u8c61\u3068\u3057\u305fAVIM\u983b\u5ea6\u8abf\u67fb\uff0e\u7b2c21\u56de\u65e5\u672c\u8133\u30c9\u30c3\u30af\u5b66\u4f1a\uff0c\u5e83\u5cf6\uff0c2012\/6\/15<\/li>\n\n\n\n
                                      5. \u548c\u6cc9\u552f\u4fe1*1\uff0c\u5bae\u672c\u4eae\u4ecb\uff0c\u5c71\u672c\u4f38\u662d*1\uff0c\u5cf6\u8c37\u4f73\u5149*1\uff0c\u85e4\u7530\u6d69\u53f8*1\uff0c\u4f50\u85e4\u5065\u592a*1\uff0c\u5bfa\u6fa4\u7531\u4f73*1\uff0c\u677e\u4e95\u5c1a\u5b50*1\uff0c\u91ce\u5bfa\u88d5\u4e4b*1\uff0c\u74e6\u4e95\u4fca\u5b5d*1\uff0c\u68b6\u9f8d\u5152*1\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff09\uff1a\u5fb3\u5cf6\u5927\u5b66\u75c5\u9662\u795e\u7d4c\u5185\u79d1\u3067\u8a3a\u65ad\u3057\u305f\u907a\u4f1d\u6027\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7\uff0e\u7b2c92\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u4e2d\u56fd\u30fb\u56db\u56fd\u5730\u65b9\u4f1a\uff0c\u5fb3\u5cf6\uff0c2012\/7\/7<\/li>\n\n\n\n
                                      6. \u5bae\u672c\u4eae\u4ecb\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff0c\u68b6\u9f8d\u5152*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff09\uff1aExome sequencing identifies a novel MRE11 mutation in a patient with generalized myoclonic tremor. \u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u7b2c57\u56de\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2012\/10\/25<\/li>\n\n\n\n
                                      7. \u6749\u539f\u52dd\u5ba3\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5bae\u672c\u4eae\u4ecb\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e0a\u91ce\u5f18\u8cb4*1\uff0c\u5317\u53e3\u6d69\u53f2*2\uff0c\u96ea\u7af9\u57fa\u5f18*3\uff0c\u6771\u9756\u4eba*4\uff0c\u897f\u4e2d\u548c\u4eba*5\uff0c\u7e54\u7530\u96c5\u4e5f*6\uff0c\u548c\u6cc9\u552f\u4fe1*7\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u8133\u795e\u7d4c\u5185\u79d1\uff0c*2\u5009\u6577\u4e2d\u592e\u75c5\u9662\uff0c*3\u4f50\u8cc0\u5927\u5b66\uff0c*4\u59eb\u8def\u4e2d\u592e\u75c5\u9662\uff0c*5\u4f4f\u53cb\u75c5\u9662\uff0c*6\u30d3\u30cf\u30fc\u30e9\u82b1\u306e\u91cc\u75c5\u9662\uff0c*7\u5fb3\u5cf6\u5927\u5b66\uff09\uff1aSCA36\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\uff0e\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u7b2c57\u56de\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2012\/10\/27<\/li>\n\n\n\n
                                      8. \u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff0c\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u9ad8\u9f62\u5316\u5730\u57df\u306e\u795e\u7d4c\u5185\u79d1\u5c02\u9580\u8a3a\u7642\u6240\u306b\u304a\u3051\u308b\u8a8d\u77e5\u75c7\u75be\u60a3\u306e\u521d\u8a3a\u6642\u5e74\u9f62\u30fb\u91cd\u75c7\u5ea6\u306b\u95a2\u3059\u308b\u691c\u8a0e\uff0e\u7b2c31\u56de\u65e5\u672c\u8a8d\u77e5\u75c7\u5b66\u4f1a\u5b66\u8853\u96c6\u4f1a\uff0c\u3064\u304f\u3070\uff0c2012\/10\/27<\/li>\n\n\n\n
                                      9. R Miyamoto, H Morino, H Maruyama, Y Izumi*1, R Kaji*1, H Kawakami \uff08*1\u5fb3\u5cf6\u5927\u5b66\uff09\uff1aExome sequence identifies a novel MRE11 mutation in a patient with generalized myoclonic tremor. 62nd Annual Meeting of The American Society of Human Genetics, San Francisco, 2012\/11\/8<\/li>\n\n\n\n
                                      10. \u5927\u7027\u6148\uff0c\u51a8\u7530\u54f2\u6cbb*1\uff0c\u5927\u8c37\u656c\u5b50\uff0c\u539f\u61b2\u884c\uff0c\u4f50\u85e4\u88d5\u54c9\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u7530\u4ee3\u8061\uff0c\u661f\u6b63\u6cbb\uff0c\u4f50\u85e4\u5065\u4e00\uff08*1\u770c\u7acb\u5e83\u5cf6\u5927\u5b66\uff09\uff1a\u5e83\u5cf6\u539f\u7206\u88ab\u7206\u8005\u306b\u304a\u3051\u308b\u764c\u6b7b\u4ea1\u5371\u967a\u5ea6\u306e\u6642\u7a7a\u9593\u5206\u5e03\u306e\u63a8\u5b9a\uff0e\u7b2c23\u56de\u65e5\u672c\u75ab\u5b66\u4f1a\u5b66\u8853\u7dcf\u4f1a\uff0c\u5927\u962a\uff0c2013\/1\/26<\/li>\n\n\n\n
                                      11. \u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u30b7\u30e3\u30f3\u30c8\u8853\u672a\u5b9f\u65bd\u7279\u767a\u6027\u6b63\u5e38\u5727\u6c34\u982d\u75c7\u306e\u7d4c\u904e\u306b\u95a2\u3059\u308b\u8003\u5bdf\uff0e\u7b2c14\u56de\u65e5\u672c\u6b63\u5e38\u5727\u6c34\u982d\u75c7\u5b66\u4f1a\uff0c\u6771\u4eac\uff0c2013\/2\/9<\/li>\n\n\n\n
                                      12. Y Izumi*1, R Miyamoto, H Morino, A Yoshizawa, K Nishinaka*1, F Udaka*1, M Kameyama*1, H Maruyama, H Kawakami\uff08*1\u4f4f\u53cb\u75c5\u9662\uff09\uff1aCerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. 65th American Academy of Neurology Annual Meeting, San Diego, 2013\/3\/20<\/li>\n\n\n\n
                                      13. \u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u9ad8\u9f62\u5316\u5730\u57df\u306e\u795e\u7d4c\u5185\u79d1\u5c02\u9580\u8a3a\u7642\u6240\u306b\u304a\u3044\u3066\u8a3a\u65ad\u3057\u305f\u6025\u6027\u671f\u8133\u6897\u585e\u306e\u5bfe\u5fdc\u306b\u95a2\u3059\u308b\u691c\u8a0e\uff0e\u7b2c38\u56de\u65e5\u672c\u8133\u5352\u4e2d\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u6771\u4eac\uff0c2013\/3\/23<\/li>\n<\/ol>\n\n\n\n

                                        \uff23\uff0e\u305d\u306e\u4ed6<\/h4>\n\n\n\n
                                          \n
                                        1. \u4e38\u5c71\u535a\u6587\uff1a\u30b3\u30fc\u30c7\u30a3\u30cd\u30fc\u30bf\u30fc\u30fb\u7dcf\u5408\u8a0e\u8ad6\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u3088\u308a\uff0e\u5e73\u621023\u5e74\u5ea6\u8a8d\u77e5\u75c7\u30b5\u30dd\u30fc\u30c8\u533b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u7814\u4fee\u4f1a\uff08\u5831\u544a\u66f8p2\uff09<\/li>\n\n\n\n
                                        2. \u5bae\u672c\u4eae\u4ecb\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1a\u795e\u7d4c\u75be\u60a3\u3068MRE11\uff0e\u7b2c\uff18\u56de\u5e83\u5cf6\u5927\u5b66\u30fb\u9577\u5d0e\u5927\u5b66\u9023\u643a\u7814\u7a76\u4e8b\u696d\u30ab\u30f3\u30d5\u30a1\u30e9\u30f3\u30b9\uff08\u5831\u544a\u66f8p55-57\uff09\uff0e\u9577\u5d0e, 2012\/6\/2<\/li>\n\n\n\n
                                        3. \u51a8\u7530\u54f2\u6cbb*1\uff0c\u4f50\u85e4\u5065\u4e00\uff0c\u5927\u8c37\u656c\u5b50\uff0c\u4f50\u85e4\u88d5\u54c9\uff0c\u539f\u61b2\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u7530\u4ee3\u8061\uff0c\u661f\u6b63\u6cbb\uff0c\u5927\u7027\u6148\uff08*1\u770c\u7acb\u5e83\u5cf6\u5927\u5b66\uff09\uff1a\u5e83\u5cf6\u539f\u7206\u88ab\u7206\u8005\u306b\u304a\u3051\u308b\u76f4\u63a5\u88ab\u7206\u7dda\u91cf\u3067\u306f\u8aac\u660e\u3067\u304d\u306a\u3044\u30ea\u30b9\u30af\u306e\u5730\u7406\u5206\u5e03\u306b\u3064\u3044\u3066\uff0e\u7b2c53\u56de\u539f\u5b50\u7206\u5f3e\u5f8c\u969c\u5bb3\u7814\u7a76\u4f1a\uff08\u9577\u5d0e\u533b\u5b66\u4f1a\u96d1\u8a8c 87, 176-180, 2012\uff09\uff0e\u9577\u5d0e\uff0c2012\/6\/3<\/li>\n\n\n\n
                                        4. \u4f50\u85e4\u5065\u4e00\uff0c\u51a8\u7530\u54f2\u6cbb*1\uff0c\u5927\u8c37\u656c\u5b50\uff0c\u4f50\u85e4\u88d5\u54c9\uff0c\u539f\u61b2\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u7530\u4ee3\u8061\uff0c\u661f\u6b63\u6cbb\uff0c\u5927\u7027\u6148\uff08*1\u770c\u7acb\u5e83\u5cf6\u5927\u5b66\uff09\uff1a\u5e83\u5cf6\u539f\u7206\u88ab\u7206\u8005\u306b\u304a\u3051\u308b\u9ed2\u3044\u96e8\u964d\u96e8\u5730\u57df\u306e\u6b7b\u4ea1\u5371\u967a\u5ea6\u306b\u3064\u3044\u3066\uff0e\u7b2c53\u56de\u539f\u5b50\u7206\u5f3e\u5f8c\u969c\u5bb3\u7814\u7a76\u4f1a\uff08\u9577\u5d0e\u533b\u5b66\u4f1a\u96d1\u8a8c 87, 186-190, 2012\uff09\uff0e\u9577\u5d0e\uff0c2012\/6\/3<\/li>\n\n\n\n
                                        5. \u5927\u8c37\u656c\u5b50\uff0c\u51a8\u7530\u54f2\u6cbb*1\uff0c\u4f50\u85e4\u5065\u4e00\uff0c\u4f50\u85e4\u88d5\u54c9\uff0c\u539f\u61b2\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u7530\u4ee3\u8061\uff0c\u661f\u6b63\u6cbb\uff0c\u5927\u7027\u6148\uff08*1\u770c\u7acb\u5e83\u5cf6\u5927\u5b66\uff09\uff1a\u5e83\u5cf6\u5165\u5e02\u88ab\u7206\u8005\u306e\u6b7b\u4ea1\u30ea\u30b9\u30af\u306b\u95a2\u3059\u308b\u7d71\u8a08\u89e3\u6790\uff0e\u7b2c53\u56de\u539f\u5b50\u7206\u5f3e\u5f8c\u969c\u5bb3\u7814\u7a76\u4f1a\uff08\u9577\u5d0e\u533b\u5b66\u4f1a\u96d1\u8a8c 87, 261-264, 2012\uff09\uff0e\u9577\u5d0e\uff0c2012\/6\/3<\/li>\n\n\n\n
                                        6. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u306e\u907a\u4f1d\u7684\u8981\u7d20\uff0e\u967d\u6e9c\u307e\u308a\u306e\u4f1a\u5e83\u5cf6\uff08\u307d\u30fc\u308c\u307d\u30fc\u308c\u5e83\u5cf6\u770c\u652f\u90e8\u7248187\u53f7p.3\uff09\uff0e\u5e83\u5cf6\uff0c2012\/6\/9<\/li>\n\n\n\n
                                        7. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5409\u6fa4\u660e\u751f\uff1aOptineurin\u907a\u4f1d\u5b50\u5909\u7570\u3092\u5c0e\u5165\u3057\u305fALS\u30e2\u30c7\u30eb\u30de\u30a6\u30b9\u306e\u89e3\u6790\uff0e\u7b2c27\u56de\u5e73\u621023\u5e74\u5ea6\u7814\u7a76\u52a9\u6210\u7814\u7a76\u767a\u8868\u4f1a\uff08\u5e73\u621023\u5e74\u5ea6\u55ab\u7159\u79d1\u5b66\u7814\u7a76\u8ca1\u56e3\u7814\u7a76\u5e74\u5831p.365-367\uff09\u6771\u4eac\uff0c2012\/7\/18<\/li>\n\n\n\n
                                        8. \u5409\u6fa4\u660e\u751f\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aoptineurin\u907a\u4f1d\u5b50\u7570\u5e38\u306b\u3088\u308b\u8133\u5185\u74b0\u5883\u306e\u5909\u5316\u3068\u795e\u7d4c\u5909\u6027\u306e\u95a2\u308f\u308a\u306e\u89e3\u660e\uff0e\u65b0\u5b66\u8853\u9818\u57df\u300c\u8133\u5185\u74b0\u5883\u300d\u5e73\u621024\u5e74\u5ea6\u590f\u306e\u30ef\u30fc\u30af\u30b7\u30e7\u30c3\u30d7\uff0e\u4ed9\u53f0\uff0c2012\/7\/24<\/li>\n\n\n\n
                                        9. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u9ad8\u9f62\u8005\u306e\u57fa\u672c\u7684\u7406\u89e3\uff0e\u5e73\u621024\u5e74\u5ea6\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u578b\u30b5\u30fc\u30d3\u30b9\u4e8b\u696d\u958b\u8a2d\u8005\u7814\u4fee\uff0e\u5e83\u5cf6\uff0c2012\/8\/20<\/li>\n\n\n\n
                                        10. \u4e38\u5c71\u535a\u6587\uff0c\u5bae\u5730\u9686\u53f2*1 (*1\u8133\u795e\u7d4c\u5185\u79d1)\uff1a\u7dcf\u5408\u8a0e\u8ad6\u300c\u5730\u57df\u533b\u7642\u9023\u643a\u306b\u3088\u308b\u56f0\u96e3\u4e8b\u4f8b\u3078\u306e\u5bfe\u5fdc\u300d\uff0e\u5e73\u621024\u5e74\u5ea6\u7b2c\uff11\u56de\u8a8d\u77e5\u75c7\u30b5\u30dd\u30fc\u30c8\u533b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u7814\u4fee\u4f1a\uff0c\u5e83\u5cf6\uff0c2012\/9\/2<\/li>\n\n\n\n
                                        11. \u4e38\u5c71\u535a\u6587\uff1a\u30b9\u30e2\u30fc\u30eb\u30b0\u30eb\u30fc\u30d7\u30df\u30fc\u30c6\u30a3\u30f3\u30b0\u300c\u7b4b\u5f37\u76f4\u6027\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u75c7\u300d\u7b2c22\u56de\u907a\u4f1d\u533b\u5b66\u30bb\u30df\u30ca\u30fc\uff0e\u5927\u962a\uff0c2012\/9\/7,8\uff08\u7b2c22\u56de\u907a\u4f1d\u533b\u5b66\u30bb\u30df\u30ca\u30fc\u30c6\u30ad\u30b9\u30c8p.SGM-15\u301cSGM-16\uff09<\/li>\n\n\n\n
                                        12. \u4e38\u5c71\u535a\u6587\uff1a\u5e73\u621024\u5e74\u5ea6\u907a\u4f1d\u5b50\u7d44\u63db\u3048\u751f\u7269\u7b49\u4f7f\u7528\u5b9f\u9a13\u5b89\u5168\u8b1b\u7fd2\u4f1a\uff0e\u5e83\u5cf6\uff0c2012\/9\/24<\/li>\n\n\n\n
                                        13. \u68ee\u91ce\u8c4a\u4e4b\uff1a\u7b2c121\u56de\u539f\u533b\u7814\u30bb\u30df\u30ca\u30fc\u300cPerrault\u75c7\u5019\u7fa4\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50\uff0e\u5e83\u5cf6\uff0c2012\/10\/18<\/li>\n\n\n\n
                                        14. \u4e38\u5c71\u535a\u6587\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u30aa\u30d7\u30c1\u30cb\u30e5\u30fc\u30ea\u30f3\uff0c\u5e83\u5cf6\u5927\u5b66\u5b66\u8853\u8b1b\u6f14\u4f1a\uff0c\u6771\u5e83\u5cf6\uff0c2012\/11\/3<\/li>\n\n\n\n
                                        15. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u306e\u30b1\u30a2\u300c\u5e83\u5cf6\u770c\u306b\u304a\u3051\u308b\u5730\u57df\u9023\u643a\u306e\u73fe\u72b6\u3068\u8ab2\u984c\u300d\u7b2c66\u56de\u56fd\u7acb\u75c5\u9662\u7dcf\u5408\u533b\u5b66\u4f1a\uff0c\u795e\u6238\uff0c2012\/11\/16<\/li>\n\n\n\n
                                        16. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u8a3a\u7642\u3068\u5730\u57df\u9023\u643a\u306e\u30d2\u30f3\u30c8\uff0c\u5e73\u621024\u5e74\u5ea6\u7b2c\uff11\u56de\u9ce5\u53d6\u770c\u6771\u90e8\u533b\u5e2b\u4f1a\u304b\u304b\u308a\u3064\u3051\u533b\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u529b\u5411\u4e0a\u7814\u4fee\u4f1a\uff0c2012\/11\/19\uff0c\u9ce5\u53d6<\/li>\n\n\n\n
                                        17. \u548c\u6cc9\u552f\u4fe1*1\uff0c\u897f\u4e2d\u548c\u4eba*2\uff0c\u5bae\u672c\u4eae\u4ecb\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u5409\u6fa4\u660e\u751f\uff0c\u7e54\u7530\u96c5\u4e5f*3\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u5b87\u9ad8\u4e0d\u53ef\u601d*2\uff0c\u4e80\u5c71\u6b63\u90a6*2\uff0c\u548c\u6cc9\u552f\u4fe1*4\uff0c\u7dbe\u6728\u5b5d*1\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5e73\u91ce\u671d\u96c4*5\uff0c\u65e5\u4e0b\u535a\u6587*2\uff0c\u68b6\u9f8d\u5152*4\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u9ad8\u6a4b\u826f\u8f14*1\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff0c*2\u4f4f\u53cb\u75c5\u9662\uff0c*3\u30d3\u30cf\u30fc\u30e9\u82b1\u306e\u91cc\u75c5\u9662\uff09\uff1a\u5f53\u9662\u3067\u7d4c\u9a13\u3057\u305f\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7\uff0e\u7b2c44\u56deOSK\uff0e\u4eac\u90fd\uff0c2012\/12\/1<\/li>\n\n\n\n
                                        18. \u4e38\u5c71\u535a\u6587\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\u306e\u30e2\u30c7\u30eb\u30de\u30a6\u30b9\u306e\u4f5c\u88fd\u30fb\u8a55\u4fa1\uff0e\u7b2c\u4e00\u4e09\u5171\u751f\u547d\u79d1\u5b66\u7814\u7a76\u632f\u8208\u8ca1\u56e3\u7814\u7a76\u5831\u544a\u96c6Vol.28, 2012\uff0ep212-219<\/li>\n\n\n\n
                                        19. \u6749\u539f\u52dd\u5ba3\uff1aThe clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese patients. \u7b2c536\u56de\u5e83\u5cf6\u5927\u5b66\u533b\u5b66\u96c6\u8ac7\u4f1a\uff0c\u5e83\u5cf6\uff0c2013\/1\/10<\/li>\n\n\n\n
                                        20. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u5009\u6301\u771f\u4eba\uff0c\u5409\u6fa4\u660e\u751f\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aOptineurin\u5909\u7570\u5c0e\u5165\u30de\u30a6\u30b9\u306e\u4f5c\u88fd\uff0e\u5e73\u621024\u5e74\u5ea6\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306b\u95a2\u3059\u308b\u8abf\u67fb\u7814\u7a76\u73ed\u5206\u79d1\u73ed\u300c\u75c5\u614b\u306b\u6839\u3056\u3057\u305fALS\u306e\u65b0\u898f\u6cbb\u7642\u6cd5\u958b\u767a\u300d\u4f1a\u8b70\uff0c\u6771\u4eac\uff0c2013\/1\/11<\/li>\n\n\n\n
                                        21. \u5bae\u672c\u4eae\u4ecb\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u5409\u6fa4\u660e\u751f\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aExome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia. \u7b2c45\u56de\u5e83\u5cf6\u795e\u7d4c\u533b\u79d1\u5b66\u7814\u7a76\u4f1a\uff0c\u5e83\u5cf6\uff0c2013\/1\/16<\/li>\n\n\n\n
                                        22. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u5009\u6301\u771f\u4eba\uff0c\u5409\u6fa4\u660e\u751f\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aOptineurin\u5909\u7570\u5c0e\u5165\u30de\u30a6\u30b9\u306e\u4f5c\u88fd\uff0e\u65b0\u5b66\u8853\u9818\u57df\u300c\u8133\u5185\u74b0\u5883\u300d\u5e73\u621024\u5e74\u5ea6\u51ac\u306e\u73ed\u4f1a\u8b70\uff0c\u4eac\u90fd\uff0c2013\/1\/17<\/li>\n\n\n\n
                                        23. \u4e38\u5c71\u535a\u6587\uff1a\u30b5\u30dd\u30fc\u30c8\u533b\u306e\u5f79\u5272\u3068\u4eca\u5f8c\u306e\u6d3b\u52d5\uff0e\u5e73\u621024\u5e74\u5ea6\u7b2c\uff12\u56de\u8a8d\u77e5\u75c7\u30b5\u30dd\u30fc\u30c8\u533b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u7814\u4fee\u4f1a\uff0c\u5e83\u5cf6\uff0c2013\/1\/27<\/li>\n\n\n\n
                                        24. \u4e38\u5c71\u535a\u6587\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u89e3\u660e\uff0e\u4e0a\u539f\u8a18\u5ff5\u751f\u547d\u79d1\u5b66\u8ca1\u56e3\u7814\u7a76\u5831\u544a\u96c6\uff0cvol.26\u3000(2012)\uff0c69. p1-p4<\/li>\n\n\n\n
                                        25. R Miyamoto, H Morino, A Yoshizawa, H Maruyama, S Matsuura, H Kawakami\uff1aExome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia. 3rd International Symposium of RIRBM, Hiroshima, 2013\/2\/13<\/li>\n\n\n\n
                                        26. \u4e38\u5c71\u535a\u6587\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u30e2\u30c7\u30eb\u30de\u30a6\u30b9\u306e\u4f5c\u6210\uff0e\u30d6\u30ec\u30a4\u30f3\u30b5\u30a4\u30a8\u30f3\u30b9\u30fb\u30ec\u30d3\u30e5\u30fc\uff12\uff10\uff11\uff13\uff0ep169-182<\/li>\n\n\n\n
                                        27. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u3092\u7406\u89e3\u3059\u308b\uff0e\u5e73\u6210\uff12\uff14\u5e74\u5ea6\u30ad\u30e3\u30e9\u30d0\u30f3\u30fb\u30e1\u30a4\u30c8\u990a\u6210\u7814\u4fee\uff0c\u5e83\u5cf6\uff0c2013\/3\/1<\/li>\n\n\n\n
                                        28. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u306e\u57fa\u672c\u7684\u7406\u89e3\uff0e\u8a8d\u77e5\u75c7\u8b1b\u6f14\u4f1a\uff0c\u4e09\u6b21\uff0c2013\/3\/9<\/li>\n<\/ol>\n\n\n\n

                                          2011\u5e74\u5ea6<\/h4>\n\n\n\n

                                          \uff21\uff0e\u539f\u3000\u8457<\/h4>\n\n\n\n
                                            \n
                                          1. KW Snapinn*1, EB Larson*1, H Kawakami, H Ujike*2, AR Borenstein*3, Y Izumi*4, R Kaji*4, H Maruyama, IF Mata*1, H Morino, M Oda*5, DW Tsuang*1, D Yearout*1, KL Edwards*1, CP Zabetian*1 (*1University of Washington, *2Okayama University, *3University of South Florida, *4Tokushima University, *5Vihara Hananosato Hospital) The UCHL1 S18Y polymorphism and Parkinson\u2019s disease in a Japanese population. Parkinsonism & Related Disorders, 17, 473-475, 2011.<\/li>\n\n\n\n
                                          2. K Sugihara, M Kamada, H Morino, H Maruyama, H Kawakami. Screening for OPTN mutations in amyotrophic lateral sclerosis in mainly Caucasian. Neurobiology of Aging, 32, 1923.e9-1923.e10, 2011.<\/li>\n\n\n\n
                                          3. H Ito*1, M Nakamura*2, O Komure*3, T Ayaki*1, R Wate*2, H Maruyama, Y Nakamura*2, K Fujita*2, S Kaneko*1, Y Okamoto*1, M Ihara*1, T Konishi*4, K Ogasawara*5, A Hirano*6, H Kusaka*2, R Kaji*7, R Takahashi*1, H Kawakami (*1Kyoto University, *2Kansai Medical University, *3Shin-ai Hospital, *4Utano Hospital, *5Shiga Medical University, *6Montefirore Medical Center, *7Tokushima University): Clinocopathological study on an ALS family with a heterozygous E478G optineurin mutation. Acta Neuropathologica, 122, 223-229, 2011.<\/li>\n\n\n\n
                                          4. \u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aOPTN\u306e\u751f\u7406\u6a5f\u80fd\u3068ALS\u306b\u304a\u3051\u308b\u75c5\u614b\uff0eClinical Neuroscience\uff0c29\uff0c1038-1039\uff0c2011<\/li>\n\n\n\n
                                          5. K Hagiwara*1, H Morino, J Shiihara*1, T Tanaka*1, H Miyazawa*1, T Suzuki*1, M Kohda*1, Y Okazaki*1, K Seyama*2, H Kawakami (*1Saitama Medical University, *2Junendo University): Homozyosity mapping on homozyogsity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients. PLoS ONE 6(9): e25059, 2011.<\/li>\n\n\n\n
                                          6. E Tanaka, H Maruyama, H Morino, H Kawakami: Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay. Hiroshima J Medical Sciences 60, 63-66, 2011.<\/li>\n\n\n\n
                                          7. T Sakaguchi*1, T Irie*1, R Kawabata*1, A Yoshida*1, H Maruyama, H Kawakami (*1Department of Virology): Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation. Neuroscience Letters, 505, 279-281, 2011<\/li>\n\n\n\n
                                          8. H Ueno*1, K Kobatake*2, M Matsumoto*1, H Morino, H Maruyama, H Kawakami (*1Department of Neurology, *2Kobatake Hospital): Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series. Journal of Medical Case Reports, 5, 573, 2011<\/li>\n\n\n\n
                                          9. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u907a\u4f1d\u5b50\u3092\u767a\u898b\uff0cDental Diamond 36, 62-65, 2011.<\/li>\n\n\n\n
                                          10. \u4e38\u5c71\u535a\u6587\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50optineurin\u306e\u540c\u5b9a\uff08\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u8cde\u53d7\u8cde\uff09\uff0c\u81e8\u5e8a\u795e\u7d4c\u5b66 52, 1-5, 2012.<\/li>\n\n\n\n
                                          11. \u4f0a\u6771\u79c0\u6587*1\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aBasic Neuroscience\u795e\u7d4c\u75c5\u7406\u300cOptineurin\u300d\uff0cAnnual Review 2012\u795e\u7d4c\uff0c27-36\uff0c2012\uff0e(*1 \u4eac\u90fd\u5927\u5b66)<\/li>\n\n\n\n
                                          12. \u4e38\u5c71\u535a\u6587\u3001\u5ddd\u4e0a\u79c0\u53f2\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7(ALS)\u306e\u57fa\u790e\u7814\u7a76\u300c\u65b0\u305f\u306a\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\u300d\uff0c\u813321 15, 16-21, 2012.<\/li>\n\n\n\n
                                          13. \u4e38\u5c71\u535a\u6587\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50optineurin\uff0c\u795e\u7d4c\u5185\u79d176, 255-260, 2012.<\/li>\n<\/ol>\n\n\n\n

                                            \uff22\uff0e\u5b66\u4f1a\u767a\u8868<\/h4>\n\n\n\n
                                              \n
                                            1. \u4e38\u5c71\u535a\u6587\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff0c\u4f0a\u6771\u79c0\u6587*2\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff0c*2\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff09\uff1aOptineurin\u306f\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b\uff0e\u7b2c108\u56de\u65e5\u672c\u5185\u79d1\u5b66\u4f1a\u8b1b\u6f14\u4f1a\uff0c\uff08\u6771\u65e5\u672c\u5927\u9707\u707d\u306e\u305f\u3081\u8a8c\u4e0a\u767a\u8868\uff09<\/li>\n\n\n\n
                                            2. Hideshi Kawakami, Hirofumi Maruyama, Hidefumi Ito*1 (*1Kyoto Universiy)\uff1aOptineurin in ALS\uff0eAAN-JSN Joint Symposium \uff08\u65e5\u7c73\u795e\u7d4c\u5b66\u4f1a\u5408\u540c\u30b7\u30f3\u30dd\u30b8\u30a6\u30e0\uff09\u300cALS\u300d\u7b2c52\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u540d\u53e4\u5c4b\uff0c2011\/5\/18<\/li>\n\n\n\n
                                            3. \u4e38\u5c71\u535a\u6587\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4f0a\u6771\u79c0\u6587*1\uff0c\u548c\u6cc9\u552f\u4fe1*2\uff0c\u938c\u7530\u6b63\u7d00\uff0c\u8429\u539f\u5f18\u4e00*3\uff0c\u963f\u90e8\u5eb7\u4e8c*4\uff0c\u5c0f\u725f\u79ae\u4fee*5\uff0c\u5c0f\u7560\u656c\u592a\u90ce*6\uff0c\u4e0a\u91ce\u5f18\u8cb4*7\uff0c\u9752\u6728\u6b63\u5fd7*8\uff0c\u65e5\u4e0b\u535a\u6587*1\uff0c\u68b6\u9f8d\u5152*2\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff0c*2\u5fb3\u5cf6\u5927\u5b66\uff0c*3\u57fc\u7389\u533b\u79d1\u5927\u5b66\uff0c*4\u5ca1\u5c71\u5927\u5b66\uff0c*5\u6df1\u4e95\u75c5\u9662\uff0c*6\u5c0f\u7560\u75c5\u9662\uff0c*7\u8133\u795e\u7d4c\u5185\u79d1\uff0c*8\u6771\u5317\u5927\u5b66\uff09\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u30aa\u30d7\u30c1\u30cb\u30e5\u30fc\u30ea\u30f3\u306e\u540c\u5b9a\u304a\u3088\u3073\u983b\u5ea6\u30fb\u81e8\u5e8a\u75c7\u72b6\uff0e\u7b2c52\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u540d\u53e4\u5c4b\uff0c2011\/5\/18<\/li>\n\n\n\n
                                            4. \u938c\u7530\u6b63\u7d00*1\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff0c\u4f0a\u6771\u79c0\u6587*2\uff0c\u9999\u5ddd\u8056\u5b50*1\uff0c\u5de5\u85e4\u82f1\u6cbb*1\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u68b6\u9f8d\u5152*1\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff0c*2\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff09\uff1a\u5e38\u67d3\u8272\u4f53\u52a3\u6027optineurin\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\uff0e\u7b2c52\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u540d\u53e4\u5c4b\uff0c2011\/5\/18<\/li>\n\n\n\n
                                            5. \u5ddd\u7530\u660e\u5e83*1\uff0c\u5e73\u4e95\u5065*1\uff0c\u9577\u5c3e\u96c5\u88d5*1\uff0c\u6e05\u6c34\u4fca\u592b*1\uff0c\u6797\u79c0\u660e*1\uff0c\u78ef\u5d0e\u82f1\u6cbb*1\uff0c\u677e\u539f\u56db\u90ce*1\uff0c\u6c34\u8c37\u4fca\u96c4*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u65b0\u4e95\u8aa0*2\uff0c\u79cb\u5c71\u6cbb\u5f66*2\uff08*1\u90fd\u7acb\u795e\u7d4c\u75c5\u9662\uff0c*2\u6771\u4eac\u90fd\u7cbe\u795e\u533b\u5b66\u7814\u7a76\u6240\uff09\uff1aFUS\/TLS\u907a\u4f1d\u5b50\u5909\u7570\u3092\u4f34\u3046\u5bb6\u65cf\u6027\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7(FALS)\u306e\u81e8\u5e8a\u50cf\u306e\u691c\u8a0e\uff0e\u7b2c52\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u540d\u53e4\u5c4b\uff0c2011\/5\/18<\/li>\n\n\n\n
                                            6. \u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u7279\u767a\u6027\u6b63\u5e38\u5727\u6c34\u982d\u75c7\u3068\u76ae\u8cea\u4e0b\u8840\u7ba1\u6027\u8a8d\u77e5\u75c7\u306b\u304a\u3051\u308bMRI\u6240\u898b\u306e\u6bd4\u8f03\uff0e\u7b2c52\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u540d\u53e4\u5c4b\uff0c2011\/5\/18<\/li>\n\n\n\n
                                            7. \u52a0\u4e16\u7530\u3086\u307f\u5b50*1\uff0c\u6c60\u7530\u9806\u5b50*1\uff0c\u65e9\u7530\u7f8e\u548c*1\uff0c\u6751\u4e0a\u6853\u4e8c*1\uff0c\u5409\u6751\u7406*1\uff0c\u7267\u91ce\u606d\u5b50*2\uff0c\u6e21\u908a\u5343\u7a2e*2\uff0c\u5927\u4e0b\u667a\u5f66*3\uff0c\u5bae\u5730\u9686\u53f2*3\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5c71\u8107\u5065\u76db*3\uff0c\u677e\u672c\u660c\u6cf0*3\uff08*1\u5e83\u5cf6\u5e02\u7dcf\u5408\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30bb\u30f3\u30bf\u30fc\uff0c*2\u5e83\u5cf6\u897f\u533b\u7642\u30bb\u30f3\u30bf\u30fc\uff0c*3\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1aSCA6, CCA\u306b\u304a\u3051\u308b\u77ed\u671f\u96c6\u4e2d\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306e\u52b9\u679c\uff1a\u53cd\u5fa9\u7d4c\u982d\u84cb\u78c1\u6c17\u523a\u6fc0\u7642\u6cd5\uff0cTRH\u6295\u4e0e\u306e\u4f75\u7528\uff0e\u7b2c52\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u540d\u53e4\u5c4b\uff0c2011\/5\/20<\/li>\n\n\n\n
                                            8. \u85e4\u7530\u8ce2\u543e*1\uff0c\u4f0a\u6771\u79c0\u6587*1\uff0c\u91d1\u5b50\u92ed*1\uff0c\u4e2d\u6751\u6b63\u5b5d*1\uff0c\u548c\u624b\u9e97\u9999*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u65e5\u4e0b\u535a\u6587*1\uff08*1\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff09\uff1a\u597d\u5869\u57fa\u6027\u5c01\u5165\u4f53\u3092\u4f34\u3046\u6210\u4eba\u767a\u75c7\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u75c5\u306b\u304a\u3051\u308boptineurin\u306e\u95a2\u4e0e\uff0e\u7b2c52\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u540d\u53e4\u5c4b\uff0c2011\/5\/20<\/li>\n\n\n\n
                                            9. \u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u9ad8\u9f62\u5316\u5730\u57df\u306e\u795e\u7d4c\u5185\u79d1\u5c02\u9580\u8a3a\u7642\u6240\u306b\u304a\u3051\u308b\u7279\u767a\u6027\u6b63\u5e38\u5727\u6c34\u982d\u75c7\u306e\u983b\u5ea6\u8abf\u67fb\uff0e\u7b2c53\u56de\u65e5\u672c\u8001\u5e74\u533b\u5b66\u4f1a\u5b66\u8853\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2011\/6\/16<\/li>\n\n\n\n
                                            10. \u5175\u982d\u9ebb\u5e0c*1\uff0c\u97f3\u90e8\u73b2\u5b50*1\uff0c\u52a0\u702c\u4f73\u5bff\u6c5f*1\uff0c\u5bb6\u8b77\u8c37\u4e94\u6708*1\uff0c\u5927\u539f\u6b63\u88d5*1\uff0c\u677e\u6d66\u4f38\u4e5f\uff0c\u6a2a\u5d0e\u606d\u4e4b*1\uff0c\u6a9c\u5c71\u82f1\u4e09*1\uff0c\u6a9c\u5c71\u6842\u5b50*1\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5c0f\u6797\u6b63\u592b*1\uff0c\u6751\u4e0a\u8302*1\uff08*1\u907a\u4f1d\u5b50\u8a3a\u7642\u90e8\uff09\uff1a\u907a\u4f1d\u6027\u4e73\u304c\u3093\u30fb\u5375\u5de3\u304c\u3093\u75c7\u5019\u7fa4\u306e\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u4e8b\u4f8b\u306e\u691c\u8a0e\uff0e\u907a\u4f1d\u533b\u5b66\u5408\u540c\u5b66\u8853\u96c6\u4f1a2011\uff0c\u4eac\u90fd\uff0c2011\/6\/19<\/li>\n\n\n\n
                                            11. \u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u8840\u7ba1\u6027\u8a8d\u77e5\u75c7\u306b\u304a\u3051\u308b\u5fae\u5c0f\u51fa\u8840\u306b\u95a2\u3059\u308b\u691c\u8a0e\uff0e\u7b2c36\u56de\u65e5\u672c\u8133\u5352\u4e2d\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u4eac\u90fd\uff0c2011\/7\/30<\/li>\n\n\n\n
                                            12. T Tonda, K Satoh, K Otani, Y Sato, H Maruyama, H Kawakami, S Tashiro, M Hoshi, M Ohtaki: Statistical analysis of spatial survival data and its application to the cohort study of Hiroshima atomic bomb survivors. International Epidemiological Association World Congress of Epidemiology, Edinburgh, 2011\/8\/7-11<\/li>\n\n\n\n
                                            13. \u51b2\u4e2d\u6cf0*1\uff0c\u5584\u5bb6\u5b5d\u4ecb*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u677e\u7530\u52dd*2\uff0c\u8c37\u53e3\u5584\u4ec1*3\uff0c\u5409\u6d66\u5eb7\u5bff*4\uff08*1\u751f\u7269\u570f\uff0c*2\u5b87\u90e8\u5927\uff0c*3\u6176\u5fdc\u5927\uff0c*4\u6c34\u7814\u30bb\u30f3\u30bf\u30fc\uff09\uff1aTILLING\u6cd5\u306b\u3088\u308b\u6297\u30a6\u30a4\u30eb\u30b9\u6027\u9b5a\u306e\u5206\u5b50\u80b2\u7a2e\u306e\u8a66\u307f\u30fcII\uff1a\u30aa\u30d7\u30c6\u30a3\u30cb\u30e5\u30fc\u30ea\u30f3\u907a\u4f1d\u5b50\u306e\u751f\u7269\u5b66\u7684\u91cd\u8981\u6027\u306e\u8a55\u4fa1\uff0e\u5e73\u6210\uff12\uff13\u5e74\u5ea6\u65e5\u672c\u9b5a\u75c5\u5b66\u4f1a\u79cb\u5b63\u5927\u4f1a\uff0c\u9577\u5d0e\uff0c2011\/10\/2<\/li>\n\n\n\n
                                            14. \u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff0c\u4f0a\u6771\u79c0\u6587*2\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u963f\u90e8\u5eb7\u4e8c*3\uff0c\u6749\u539f\u52dd\u5ba3\uff0c\u5bae\u672c\u4eae\u4ecb\uff0c\u5c0f\u7560\u656c\u592a\u90ce*4\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff0c*2\u4eac\u90fd\u5927\u5b66\uff0c*3\u5ca1\u5c71\u5927\u5b66\uff0c*4\u5c0f\u7560\u75c5\u9662\uff09\uff1aOptineurin\u5909\u7570\u306b\u3088\u308b\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u81e8\u5e8a\u7d4c\u904e\u304a\u3088\u3073\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u983b\u5ea6\uff0e\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u7b2c56\u56de\u5927\u4f1a\uff0c\u5343\u8449\uff0c2011\/11\/11<\/li>\n\n\n\n
                                            15. \u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u8a8d\u77e5\u75c7\u75be\u60a3\u5206\u5e03\u306e\u5e74\u9f62\u968e\u5c64\u306b\u3088\u308b\u5dee\u7570\u306b\u95a2\u3059\u308b\u691c\u8a0e\uff0e\u7b2c30\u56de\u65e5\u672c\u8a8d\u77e5\u75c7\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u6771\u4eac\uff0c2011\/11\/12<\/li>\n\n\n\n
                                            16. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u539f\u56e0\u907a\u4f1d\u5b50\u304b\u3089\u307f\u305fALS\uff0e\u30b7\u30f3\u30dd\u30b8\u30a6\u30e0\u300c\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7(ALS)\u306e\u75c5\u614b\u89e3\u660e\u306b\u5411\u3051\u3066\u30fc\u65b0\u85ac\u958b\u767a\u306e\u7cf8\u53e3\u3068\u5c06\u6765\u3078\u306e\u671f\u5f85\u300d\uff0c\u7b2c85\u56de\u65e5\u672c\u85ac\u7406\u5b66\u4f1a\u5e74\u4f1a\uff0c\u4eac\u90fd\uff0c2012\/3\/16<\/li>\n\n\n\n
                                            17. \u671b\u6708\u8449\u5b50*1\uff0c\u5ddd\u7530\u660e\u5e83*1\uff0c\u65b0\u4e95\u8aa0*2\uff0c\u672c\u9593\u7422*1\uff0c\u6e21\u90e8\u548c\u5f66*2\uff0c\u79cb\u5c71\u6cbb\u5f66*2\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u5c0f\u68ee\u9686\u53f8*1\uff0c\u6c34\u8c37\u4fca\u96c4*1\uff0c\u677e\u539f\u56db\u90ce*1\uff08*1\u90fd\u7acb\u795e\u7d4c\u75c5\u9662\uff0c*2\u90fd\u533b\u5b66\u7814\uff09\uff1a\u6a4b\u6838\u306e\u795e\u7d4c\u7d30\u80de\u306e\u8131\u843d\u3068\u3068\u3082\u306b\u591a\u6570\u306eFUS\u967d\u6027\u69cb\u9020\u7269\u3092\u5e83\u7bc4\u56f2\u306a\u5909\u6027\u90e8\u4f4d\u306b\u8a8d\u3081\u305f\u304c\u3001FUS\/TLS\u907a\u4f1d\u5b50\u306b\u306f\u5909\u7570\u3092\u8a8d\u3081\u306a\u304b\u3063\u305f\u5bb6\u65cf\u6027ALS\u306e\uff11\u4f8b\uff0e\u7b2c100\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u95a2\u6771\u5730\u65b9\u4f1a\uff0c\u6771\u4eac\uff0c2012\/3\/24<\/li>\n<\/ol>\n\n\n\n

                                              \uff23\uff0e\u305d\u306e\u4ed6<\/h4>\n\n\n\n
                                                \n
                                              1. \u4e38\u5c71\u535a\u6587\uff1a\u5e73\u621023\u5e74\u5ea6\u907a\u4f1d\u5b50\u7d44\u63db\u3048\u751f\u7269\u7b49\u4f7f\u7528\u5b9f\u9a13\u5b89\u5168\u8b1b\u7fd2\u4f1a\uff0e\u5e83\u5cf6\uff0c2011\/4\/25<\/li>\n\n\n\n
                                              2. \u4e38\u5c71\u535a\u6587\uff1a\u30b3\u30fc\u30c7\u30a3\u30cd\u30fc\u30bf\u30fc\u30fb\u7dcf\u5408\u8a0e\u8ad6\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u3088\u308a\uff0e\u5e73\u621022\u5e74\u5ea6\u8a8d\u77e5\u75c7\u30b5\u30dd\u30fc\u30c8\u533b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u7814\u4fee\u4f1a\uff08\u5831\u544a\u66f8p2\uff09<\/li>\n\n\n\n
                                              3. \u4e38\u5c71\u535a\u6587\uff1a\u308f\u304b\u308a\u3084\u3059\u3044\u907a\u4f1d\u5b66\u6982\u8ad6\uff0c\u7b2c\uff14\u56de\u5e83\u5cf6\u81e8\u5e8a\u907a\u4f1d\u30bb\u30df\u30ca\u30fc\uff0c\u5e83\u5cf6\uff0c2011\/5\/31<\/li>\n\n\n\n
                                              4. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u91d1\u4e95\u662d\u6559\uff0c\u81fa\u91ce\u548c\u5e83*1\uff0c\u658e\u85e4\u4fca\u884c*1\uff08*1\u653e\u5c04\u7dda\u7dcf\u5408\u533b\u5b66\u7814\u7a76\u6240\uff09\uff1a\u4f4e\u7dda\u91cf\u653e\u5c04\u7dda\u306e\u30e1\u30c1\u30eb\u5316\u3078\u306e\u5f71\u97ff\uff0e\u7b2c\uff17\u56de\u5e83\u5cf6\u5927\u5b66\u30fb\u9577\u5d0e\u5927\u5b66\u9023\u643a\u7814\u7a76\u4e8b\u696d\u30ab\u30f3\u30d5\u30a1\u30e9\u30f3\u30b9\uff08\u5831\u544a\u66f8p63-66\uff09\uff0e\u5e83\u5cf6, 2011\/6\/4<\/li>\n\n\n\n
                                              5. \u51a8\u7530\u54f2\u6cbb\uff0c\u4f50\u85e4\u5065\u4e00\uff0c\u5927\u8c37\u656c\u5b50\uff0c\u4f50\u85e4\u88d5\u54c9\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u661f\u6b63\u6cbb\uff0c\u5927\u7027\u6148\uff1a\u5e83\u5cf6\u539f\u7206\u88ab\u7206\u8005\u30b3\u30db\u30fc\u30c81970\u301c2010\u5e74\u306b\u304a\u3051\u308b\u30ea\u30b9\u30af\u5730\u56f3\u306e\u63a8\u5b9a\uff0e\u7b2c52\u56de\u539f\u5b50\u7206\u5f3e\u5f8c\u969c\u5bb3\u7814\u7a76\u4f1a\uff0e\u5e83\u5cf6\uff0c2011\/6\/5<\/li>\n\n\n\n
                                              6. \u4e38\u5c71\u535a\u6587\uff1a\u8133\u306e\u75c5\u6c17\u3068\u907a\u4f1d\u5b50\uff0c\u5e83\u5cf6\u5927\u5b66\u533b\u5b66\u90e8\u516c\u958b\u8b1b\u5ea7\u30fb\u4e16\u754c\u8133\u9031\u9593\u5e83\u5cf6\u30a4\u30d9\u30f3\u30c8\u300c\u8133\u3068\u5fc3\u306e\u79d1\u5b66\u306f\u304a\u3082\u3057\u308d\u3044\u300d\uff0e\u5e83\u5cf6\uff0c2011\/6\/11<\/li>\n\n\n\n
                                              7. \u4e38\u5c71\u535a\u6587\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\u306e\u540c\u5b9a\uff0e\u7b2c46\u56de\u5e83\u5cf6\u5927\u5b66\u30fb\u751f\u547d\u79d1\u5b66\u30d5\u30a9\u30fc\u30e9\u30e0\uff0e\u6771\u5e83\u5cf6\uff0c2011\/6\/24<\/li>\n\n\n\n
                                              8. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\uff0e\u7b2c20\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u4e2d\u56fd\u30fb\u56db\u56fd\u5730\u533a\u969c\u5bb3\u6559\u80b2\u8b1b\u6f14\u4f1a\uff0e\u5ca1\u5c71\uff0c2011\/6\/26\uff08\u6284\u9332\uff1a\u81e8\u5e8a\u795e\u7d4c\u5b66\uff0c51\uff0cp711\uff0c2011\uff09<\/li>\n\n\n\n
                                              9. \u4e38\u5c71\u535a\u6587\uff1a\u8133\u306e\u75c5\u6c17\u3068\u907a\u4f1d\u5b50\u306e\u8a71\uff0c\u5e73\u6210\uff12\uff13\u5e74\u5ea6\u5e83\u5cf6\u5927\u5b66\u516c\u958b\u8b1b\u5ea7\u300c\u65e5\u5e38\u751f\u6d3b\u306b\u304a\u3051\u308b\u653e\u5c04\u7dda\u3068\u5065\u5eb7\u5f71\u97ff\u30fb\u907a\u4f1d\u5b50\u3068\u75c5\u6c17\u300d\uff0e\u5e83\u5cf6\uff0c2011\/7\/7<\/li>\n\n\n\n
                                              10. \u4e38\u5c71\u535a\u6587\uff1a\u304b\u304b\u308a\u3064\u3051\u533b\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u529b\u5411\u4e0a\u7814\u4fee\u4f1a\uff0e\u5e83\u5cf6\uff0c2011\/7\/24<\/li>\n\n\n\n
                                              11. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u30af\u30ea\u30cb\u30ab\u30eb\u30fb\u30ab\u30f3\u30d5\u30a1\u30e9\u30f3\u30b9\u30bb\u30df\u30ca\u30fc\u300c\u8a8d\u77e5\u75c7\u6cbb\u7642\u306e\u57fa\u672c\u7684\u7406\u89e3\u300d\uff0e\u5e83\u5cf6\uff0c2011\/7\/29<\/li>\n\n\n\n
                                              12. \u5ddd\u4e0a\u79c0\u53f2\uff1aRCC\u30e9\u30b8\u30aa\uff1a\u3054\u305c\u3093\u69d8\u3055\u307e\u300c\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u533b\u5b66\u7684\u306a\u7406\u89e3\u306b\u3064\u3044\u3066\u300d\uff0e\u5e83\u5cf6\uff0c2011\/8\/9<\/li>\n\n\n\n
                                              13. \u4e38\u5c71\u535a\u6587\uff1a\u9ad8\u9f62\u8005\u306b\u304a\u3051\u308b\u795e\u7d4c\u75be\u60a3\u2014\u8a8d\u77e5\u75c7\u3092\u4e2d\u5fc3\u306b\uff0e2011\u5e74\u5ea6\u533b\u5b66\u77e5\u8b58\u7fd2\u719f\u57fa\u790e\u7814\u4fee\uff0e\u5e83\u5cf6\uff0c2010\/8\/22<\/li>\n\n\n\n
                                              14. \u4e38\u5c71\u535a\u6587\uff1a\u9ad8\u9f62\u8005\u306b\u304a\u3051\u308b\u795e\u7d4c\u75be\u60a3\u2014\u8a8d\u77e5\u75c7\u3092\u4e2d\u5fc3\u306b\uff0e2011\u5e74\u5ea6\u533b\u5b66\u77e5\u8b58\u7fd2\u719f\u57fa\u790e\u7814\u4fee\uff0e\u798f\u5c71\uff0c2010\/8\/23<\/li>\n\n\n\n
                                              15. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u9ad8\u9f62\u8005\u306e\u57fa\u672c\u7684\u7406\u89e3\uff0e\u5e73\u621023\u5e74\u5ea6\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u578b\u30b5\u30fc\u30d3\u30b9\u4e8b\u696d\u958b\u8a2d\u8005\u7814\u4fee\uff0e\u5e83\u5cf6\uff0c2011\/8\/25<\/li>\n\n\n\n
                                              16. \u4e38\u5c71\u535a\u6587\uff1a\u5357\u533a\u8a8d\u77e5\u75c7\u30af\u30ea\u30cb\u30ab\u30eb\u30ab\u30f3\u30d5\u30a1\u30ec\u30f3\u30b9\u30bb\u30df\u30ca\u30fc\u300c\u8a8d\u77e5\u75c7\u8a3a\u7642\u306e\u30a8\u30c3\u30bb\u30f3\u30b9\u300d\uff0e\u5e83\u5cf6\uff0c2011\/8\/29<\/li>\n\n\n\n
                                              17. \u4e38\u5c71\u535a\u6587\uff1a\u4e09\u539f\u5730\u533a\u8a8d\u77e5\u75c7\u7814\u4fee\u4f1a\u300c\u8a8d\u77e5\u75c7\u8a3a\u7642\u306e\u57fa\u672c\u7684\u7406\u89e3\u300d\uff0e\u4e09\u539f\uff0c2011\/9\/6<\/li>\n\n\n\n
                                              18. \u4e38\u5c71\u535a\u6587\uff1a\u30a2\u30b9\u30c6\u30e9\u30b9\u75c5\u614b\u4ee3\u8b1d\u7814\u7a76\u4f1a\u8ca1\u56e3\u5831No.4\uff0e\u300c\u795e\u7d4c\u5909\u6027\u75be\u60a3\u304c\u6cbb\u308b\u6642\u3092\u3081\u3056\u3057\u3066\u300dp22\uff0c2011<\/li>\n\n\n\n
                                              19. \u4e38\u5c71\u535a\u6587\uff1a\u795e\u7d4c\u5185\u79d1Research-Seminar\u300c\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\u306e\u540c\u5b9a\u300d\u4ed9\u53f0\uff0c2011\/9\/21<\/li>\n\n\n\n
                                              20. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306b\u95a2\u3059\u308b\u8abf\u67fb\u7814\u7a76\u73ed\u5206\u79d1\u73ed\u300c\u75c5\u614b\u306b\u6839\u3056\u3057\u305fALS\u306e\u65b0\u898f\u6cbb\u7642\u6cd5\u958b\u767a\u73ed\u300d\u5e73\u621023\u5e74\u5ea6\u30ef\u30fc\u30af\u30b7\u30e7\u30c3\u30d7\u300cOptineurin\u3068ALS\u300d\uff0e\u6771\u4eac\uff0c2011\/9\/22<\/li>\n\n\n\n
                                              21. \u4e38\u5c71\u535a\u6587\uff1a\u5e73\u621023\u5e74\u5ea6\u907a\u4f1d\u5b50\u7d44\u63db\u3048\u751f\u7269\u7b49\u4f7f\u7528\u5b9f\u9a13\u5b89\u5168\u8b1b\u7fd2\u4f1a\uff0e\u5e83\u5cf6\uff0c2011\/9\/27<\/li>\n\n\n\n
                                              22. \u4e38\u5c71\u535a\u6587\uff1a\u30a2\u30b9\u30c6\u30e9\u30b9\u75c5\u614b\u4ee3\u8b1d\u7814\u7a76\u4f1a\u7b2c42\u56de\u7814\u7a76\u5831\u544a\u4f1a\u300c\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\u5909\u7570\u306b\u3088\u308b\u30e2\u30c7\u30eb\u30de\u30a6\u30b9\u306e\u4f5c\u6210\u300d\u6771\u4eac\uff0c2011\/10\/15<\/li>\n\n\n\n
                                              23. \u4e38\u5c71\u535a\u6587\uff1a\u5e73\u6210\uff12\uff13\u5e74\u5ea6\u304b\u304b\u308a\u3064\u3051\u533b\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u529b\u5411\u4e0a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u7814\u4fee\u4f1a\u300c\u8a8d\u77e5\u75c7\u306e\u8a3a\u65ad\u65b9\u6cd5\u3068\u6cbb\u7642\u300d\u798f\u5c71\uff0c2011\/10\/23<\/li>\n\n\n\n
                                              24. \u4e38\u5c71\u535a\u6587\uff0c\u5bae\u5730\u9686\u53f2*1 (*1\u8133\u795e\u7d4c\u5185\u79d1)\uff1a\u7dcf\u5408\u8a0e\u8ad6\u300c\u5730\u57df\u533b\u7642\u9023\u643a\u306e\u69cb\u7bc9\u300d\uff0e\u5e73\u621023\u5e74\u5ea6\u7b2c\uff11\u56de\u8a8d\u77e5\u75c7\u30b5\u30dd\u30fc\u30c8\u533b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u7814\u4fee\u4f1a\uff0c\u5e83\u5cf6\uff0c2011\/11\/6<\/li>\n\n\n\n
                                              25. \u4e38\u5c71\u535a\u6587\uff1a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u7814\u4fee\u306e\u4f01\u753b\u30fb\u5b9f\u65bd\u306e\u30d7\u30ed\u30bb\u30b9\u3068\u8ab2\u984c\uff0e\u8a8d\u77e5\u75c7\u30b5\u30dd\u30fc\u30c8\u533b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u7814\u4fee\u30e2\u30c7\u30eb\u8b1b\u7fd2\u4f1a\uff0c\u6771\u4eac\uff0c2011\/11\/26<\/li>\n\n\n\n
                                              26. \u4f0a\u6771\u79c0\u6587*1\uff0c\u4e2d\u6751\u6b63\u5b5d*2\uff0c\u5c0f\u725f\u79ae\u4fee*3\uff0c\u938c\u7530\u6b63\u7d00*4\uff0c\u548c\u6cc9\u552f\u4fe1*4\uff0c\u7dbe\u6728\u5b5d*1\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5e73\u91ce\u671d\u96c4*5\uff0c\u65e5\u4e0b\u535a\u6587*2\uff0c\u68b6\u9f8d\u5152*4\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u9ad8\u6a4b\u826f\u8f14*1\uff08*1\u4eac\u90fd\u5927\u5b66\uff0c*2\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff0c*3\u3057\u3093\u3042\u3044\u75c5\u9662\uff0c*4\u5fb3\u5cf6\u5927\u5b66\uff0c\uff09\uff1aOptineurin\u907a\u4f1d\u5b50\u5909\u7570(E478G\u512a\u6027\u3001Q398X\u52a3\u6027)\u4f8b\u306e\u81e8\u5e8a\u75c5\u7406\u5b66\u7684\u691c\u8a0e\uff0e\u5e73\u621023\u5e74\u5ea6\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306b\u95a2\u3059\u308b\u8abf\u67fb\u7814\u7a76\u73ed\u4f1a\u8b70\uff0e\u6771\u4eac\uff0c2011\/12\/17<\/li>\n\n\n\n
                                              27. \u5409\u6fa4\u660e\u751f\uff0c\u5fb3\u6c38\u6587\u5fb3*1\uff0c\u5742\u53e3\u525b\u6b63*2\uff0c\u5165\u6c5f\u5d07*2\uff0c\u5ddd\u7aef\u51c9\u5b50*2\uff0c\u5409\u7530\u660e\u65e5\u9999*2\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ca9\u4e95\u4e00\u5b8f*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5927\u962a\u5927\u5b66\uff0c*2\u30a6\u30a4\u30eb\u30b9\u5b66\uff09\uff1aOptineurin-ALS\u512a\u6027\u5909\u7570E478G\u306f\u76f4\u9396\u72b6\u30e6\u30d3\u30ad\u30c1\u30f3\u7d50\u5408\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\uff0e\u5e73\u621023\u5e74\u5ea6\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306b\u95a2\u3059\u308b\u8abf\u67fb\u7814\u7a76\u73ed\u5206\u79d1\u73ed\u300c\u75c5\u614b\u306b\u6839\u3056\u3057\u305fALS\u306e\u65b0\u898f\u6cbb\u7642\u6cd5\u958b\u767a\u300d\u4f1a\u8b70\uff0c\u6771\u4eac\uff0c2012\/1\/6<\/li>\n\n\n\n
                                              28. \u79cb\u6708\u771f\u7531\u7f8e*1\u3001\u5c71\u4e0b\u535a\u53f2*1\u3001\u690d\u6751\u5065\u543e*1\u3001\u4e38\u5c71\u535a\u6587\u3001\u5ddd\u4e0a\u79c0\u53f2\u3001\u4f0a\u6771\u79c0\u6587*1\u3001\u9ad8\u6a4b\u826f\u8f14*1\uff08*1\u4eac\u90fd\u5927\u5b66\uff09\uff1a\u57f9\u990a\u7d30\u80de\u3092\u7528\u3044\u305fOptineurin\u30ce\u30c3\u30af\u30c0\u30a6\u30f3\u52b9\u679c\u306e\u89e3\u6790\u5e73\u621023\u5e74\u5ea6\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306b\u95a2\u3059\u308b\u8abf\u67fb\u7814\u7a76\u73ed\u5206\u79d1\u73ed\u300c\u75c5\u614b\u306b\u6839\u3056\u3057\u305fALS\u306e\u65b0\u898f\u6cbb\u7642\u6cd5\u958b\u767a\u300d\u4f1a\u8b70\uff0e\u6771\u4eac\uff0c2012\/1\/6<\/li>\n\n\n\n
                                              29. \u4e38\u5c71\u535a\u6587\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\u306e\u30e2\u30c7\u30eb\u30de\u30a6\u30b9\u306e\u4f5c\u88fd\u30fb\u8a55\u4fa1\uff0c\u65e5\u672c\u533b\u5e2b\u4f1a\u96d1\u8a8c140\uff08\u7b2c10\u53f7\u5225\u518a\uff09p46\uff0c2012<\/li>\n\n\n\n
                                              30. \u4e38\u5c71\u535a\u6587\uff1a\u5e83\u5cf6\u3067\u306e\u53d6\u308a\u7d44\u307f\uff08\u8a8d\u77e5\u75c7\u30b5\u30dd\u30fc\u30c8\u533b\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u30db\u30fc\u30e0\u30da\u30fc\u30b8\u3001\u5404\u5730\u306e\u53d6\u308a\u7d44\u307f\u4e00\u89a7\uff09\uff0c2012\/1\/11<\/li>\n\n\n\n
                                              31. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u4eac\u90fd\u5927\u5b66\u30fb\u5927\u962a\u30d0\u30a4\u30aa\u30b5\u30a4\u30a8\u30f3\u30b9\u7814\u7a76\u6240\u30fb\u7406\u5316\u5b66\u7814\u7a76\u6240\u3000\u5408\u540c\u30b7\u30f3\u30dd\u30b8\u30a6\u30e0\u300c\u9ad8\u6b21\u751f\u547d\u5236\u5fa1\u7814\u7a76\u306e\u30cb\u30e5\u30fc\u30d5\u30ed\u30f3\u30c6\u30a3\u30a2\u300d\uff1a\u65b0\u898fALS\u539f\u56e0\u907a\u4f1d\u5b50optineurin\u306e\u540c\u5b9a\u3068\u305d\u306e\u75c5\u7406\uff0c\u4eac\u90fd\uff0c2012\/1\/20<\/li>\n\n\n\n
                                              32. \u5409\u6fa4\u660e\u751f\uff0c\u5fb3\u6c38\u6587\u5fb3*1\uff0c\u5742\u53e3\u525b\u6b63*2\uff0c\u5165\u6c5f\u5d07*2\uff0c\u5ddd\u7aef\u51c9\u5b50*2\uff0c\u5409\u7530\u660e\u65e5\u9999*2\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ca9\u4e95\u4e00\u5b8f*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5927\u962a\u5927\u5b66\uff0c*2\u30a6\u30a4\u30eb\u30b9\u5b66\uff09\uff1aOptineurin-ALS\u512a\u6027\u5909\u7570E478G\u306f\u76f4\u9396\u72b6\u30e6\u30d3\u30ad\u30c1\u30f3\u7d50\u5408\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\uff0e\u65b0\u5b66\u8853\u9818\u57df\u7814\u7a76\u300c\u8133\u5185\u74b0\u5883\uff1a\u6052\u5e38\u6027\u7dad\u6301\u6a5f\u69cb\u3068\u305d\u306e\u7834\u7dbb\u300d\u5e73\u621023\u5e74\u5ea6\u51ac\u306e\u73ed\u4f1a\u8b70\uff0c\u71b1\u6d77\uff0c2012\/1\/29<\/li>\n\n\n\n
                                              33. \u4e38\u5c71\u535a\u6587\uff0c\u5bae\u5730\u9686\u53f2*1 (*1\u8133\u795e\u7d4c\u5185\u79d1)\uff1a\u7dcf\u5408\u8a0e\u8ad6\u300c\u533b\u7642\u30fb\u4ecb\u8b77\u9023\u643a\u306e\u3042\u308a\u65b9\u300d\uff0e\u5e73\u621023\u5e74\u5ea6\u7b2c\uff12\u56de\u8a8d\u77e5\u75c7\u30b5\u30dd\u30fc\u30c8\u533b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u7814\u4fee\u4f1a\uff0c\u5e83\u5cf6\uff0c2012\/1\/29<\/li>\n\n\n\n
                                              34. Tetsuji Tonda, Kenichi Satoh, Keiko Otani, Yuya Sato, Hirofumi Maruyama, Hideshi Kawakami, Satoshi Tashiro, Masaharu Hoshi, Megu Ohtaki: Investigation on circular asymmetry of geographical distribution of mortality risk in Hiroshima atomic bomb survivors. 17th Hiroshima International Symposium-Lessens from unhappy events in the history of nuclear power development-. Hiroshima, 2012\/1\/26<\/li>\n\n\n\n
                                              35. \u5ddd\u4e0a\u79c0\u53f2\uff1aOptineurin\u306b\u3088\u308bALS\uff0c\u30b5\u30a4\u30a8\u30f3\u30b9\u30ad\u30e3\u30f3\u30d7\uff0c\u5bae\u5d0e\uff0c2012\/2\/18<\/li>\n\n\n\n
                                              36. Tetsuji Tonda, Kenichi Satoh, Keiko Otani, Yuya Sato, Hirofumi Maruyama, Hideshi Kawakami, Satoshi Tashiro, Masaharu Hoshi, Megu Ohtaki: Statistical analysis of survival data and application to the cohort study of Hiroshima atomic bomb survivors. International Symposium 50th Anniversary of RIRBM, Hiroshima University. Hiroshima, 2012\/2\/21<\/li>\n\n\n\n
                                              37. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u3068\u907a\u4f1d\u306b\u3064\u3044\u3066\uff0c\u7b2c\uff13\u56de\u8a8d\u77e5\u75c7\u30cf\u30fc\u30c8\u30fb\u30d5\u30a9\u30fc\u30e9\u30e0\uff0c\u5e83\u5cf6\uff0c2012\/3\/8<\/li>\n\n\n\n
                                              38. \u4e38\u5c71\u535a\u6587\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u305f\u306a\u539f\u56e0\u907a\u4f1d\u5b50\uff0c\u5e83\u5cf6\u5927\u5b66\u516c\u958b\u8b1b\u5ea7\uff0c\u5e83\u5cf6\uff0c2012\/3\/20<\/li>\n<\/ol>\n\n\n\n

                                                2010\u5e74\u5ea6<\/h4>\n\n\n\n

                                                \uff21\uff0e\u539f\u3000\u8457<\/h4>\n\n\n\n
                                                  \n
                                                1. H Maruyama, H Morino, H Ito*1, Y Izumi*2, H Kato*3, Y Watanabe*4, Y Kinoshita*1, M Kamada, H Nodera*2, H Suzuki*5, O Komure*6, S Matsuura, K Kobatake*7, N Morimoto*8, K Abe*8, N Suzuki*9, M Aoki*9, A Kawata*10, T Hirai*10, T Kato*11, K Ogasawara*12, A Hirano*13, T Takumi*4, H Kusaka*1, K Hagiwara*3, R Kaji*2, H Kawakami (*1 Kansai Medical University, *2 University of Tokushima Graduate School, *3Saitama Medical University, *4Laboratory of Integrative Bioscience, *5Hiroshima Bunkyo Women\u2019s University, *6South Osaka Neurosurgical Hospital, *7Kobatake Hospital, *8Okayama University, *9Tohoku University School of Medicine, *10Tokyo Metropolitan Neurological Hospital, *11Yamagata University Faculty of Medicine, *12Shiga University of Medical Science, *13Montefiore Medical Center): Mutations of optineurin in amyotrophic lateral sclerosis. Nature, 465, 223-226, 2010<\/li>\n\n\n\n
                                                2. \u4f50\u85e4\u88d5\u54c9\uff0c\u661f\u6b63\u6cbb\uff0c\u5927\u7027\u6148\uff0c\u4e38\u5c71\u535a\u6587\uff0cHarry M Cullings*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u653e\u5f71\u7814\uff09\uff1a\u5730\u7406\u60c5\u5831\u30b7\u30b9\u30c6\u30e0\u3092\u7528\u3044\u305f\u88ab\u7206\u8005\u4f4d\u7f6e\u60c5\u5831\u306e\u9ad8\u7cbe\u5ea6\u5316\u306e\u8a66\u307f\uff0e\u5e83\u5cf6\u533b\u5b66\uff0c63\uff0c261-264\uff0c2010<\/li>\n\n\n\n
                                                3. \u938c\u7530\u4e03\u7537*1\uff0c\u7530\u4ee3\u8061\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u795e\u8c37\u7814\u4e8c\uff0c\u539f\u7530\u7d50\u82b1\uff08*1\u5e83\u5cf6\u5927\u5b66\uff09\uff1a\u300c\u5f53\u6642\u306e\u30ab\u30eb\u30c6\u300d\u3092\u7528\u3044\u305f\u300cAFIP\u8fd4\u9084\u88ab\u7206\u8cc7\u6599\u300d\u306e\u691c\u8a3c\u3068\u6025\u6027\u671f\u9aa8\u9ac4\u969c\u5bb3\u6b7b\u4ea1\u4f8b\u306e\u81e8\u5e8a\u30fb\u75c5\u7406\u5b66\u7684\u691c\u8a0e\uff0e\u5e83\u5cf6\u533b\u5b66\uff0c63\uff0c282-285\uff0c2010<\/li>\n\n\n\n
                                                4. Changshui Xu*1, Jun Xu*1, Yanmin Zhang*1, Jianjun Ma*1, Hideshi Kawakami, Hirofumi Maruyama Masaki Kamada (*1 Henan Provincial people\u2019s Hospital) Analysis on the susceptibility genes in two Chinese pedigrees with familial Parkinson’s Disease. Neurology Research International, 2010, Article ID 674740, doi:10.1155\/2010\/674740, 2010<\/li>\n\n\n\n
                                                5. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u4e38\u5c71\u535a\u6587\uff1a\u5bb6\u65cf\u6027ALS\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\uff0e\u533b\u5b66\u306e\u3042\u3086\u307f\uff0c235\uff0c227-230\uff0c2010<\/li>\n\n\n\n
                                                6. \u51a8\u7530\u54f2\u6cbb\uff0c\u4f50\u85e4\u5065\u4e00\uff0c\u5927\u8c37\u656c\u5b50\uff0c\u4f50\u85e4\u88d5\u54c9\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u661f\u6b63\u6cbb\uff0c\u5927\u7027\u6148\uff1a\u5e83\u5cf6\u539f\u7206\u88ab\u7206\u8005\u30b3\u30db\u30fc\u30c8\u306b\u304a\u3051\u308b\u88ab\u7206\u6642\u6240\u5728\u5730\u306b\u57fa\u3065\u304f\u6b7b\u4ea1\u5371\u967a\u5ea6\u5730\u56f3\u4f5c\u6210\u306e\u8a66\u307f\uff0e\u9577\u5d0e\u533b\u5b66\u4f1a\u96d1\u8a8c\uff0c85\uff0c185-188\uff0c2010<\/li>\n\n\n\n
                                                7. \u4f50\u85e4\u88d5\u54c9\uff0c\u661f\u6b63\u6cbb\uff0c\u5927\u7027\u6148\uff0c\u539f\u61b2\u884c\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1a\u5e83\u5cf6\u539f\u7206\u95a2\u9023\u5730\u56f3\u8cc7\u6599\u306e\u30c7\u30b8\u30bf\u30eb\u5316\uff0e\u9577\u5d0e\u533b\u5b66\u4f1a\u96d1\u8a8c\uff0c85\uff0c193-197\uff0c2010<\/li>\n\n\n\n
                                                8. \u938c\u7530\u4e03\u7537\uff0c\u7530\u4ee3\u8061\uff0c\u6728\u6751\u662d\u90ce\uff0c\u4e09\u539f\u572d\u4e00\u6717\uff0c\u5927\u7027\u6148\uff0c\u661f\u6b63\u6cbb\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u795e\u8c37\u7814\u4e8c\uff1a\u5e83\u5cf6\u770c\u5185\u539f\u7206\u88ab\u7206\u8005\u306e\u5b50\u4f9b\u6570\uff0e\u9577\u5d0e\u533b\u5b66\u4f1a\u96d1\u8a8c\uff0c85\uff0c300-303\uff0c2010<\/li>\n\n\n\n
                                                9. Huqun*1, S Fukuyama*1, H Morino, H Miyazawa*1, T Tanaka*1, T Suzuki*1, M Kohda*1, H Kawakami, Y Okazaki*1, K Seyama*2, K Hagiwara*1. (*1\u57fc\u7389\u533b\u79d1\u5927\uff0c*2\u9806\u5929\u5802\u5927\u5b66) A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data. BMC Bioinformatics, 11(Suppl 7): S5, 2010<\/li>\n\n\n\n
                                                10. Sanefuji M*1, Kira R*1, Matsumoto K*1, Gondo K*1, Torisu H*1, Kawakami H, Iwaki T*1, Hara T*1 (*1Kyushu University): Autopsy case of later-onset pontocerebellar hypoplasia type 1: pontine atrophy and pyramidal tract involvement. J Child Neurology, 25, 1429-1434, 2010<\/li>\n\n\n\n
                                                11. H Ito*1, K Fujita*2, M Nakamura*2, R Wate*2, S Kaneko*2, S Sasaki*3, K Yamane*4, N Suzuki*5, M Aoki*5, N Shibata*3, S Togashi*6, A Kawata*7, Yoko Mochizuki*7, Toshio Mizutani*7, H Maruyama, A Hirano*9, R Takahashi*1, H Kawakami, Hirofumi Kusaka*2(*1Kyoto Universiy, *2Kansai Medical University, *3Tokyo Women\u2019s Mediacal University, *4Ohta-Atami Hospital, *5Tohoku University, *6Kofu City Hospital, *7Tokyo Metropolitan Neurological Hospital, *8Montefirore Medical Center) Optineurin is co-localized with FUS in inclusions of basophilic inclusion body disease. Acta Neuropatholocia, 121, 555-557, 2011<\/li>\n<\/ol>\n\n\n\n

                                                  \uff22\uff0e\u5b66\u4f1a\u767a\u8868<\/h4>\n\n\n\n
                                                    \n
                                                  1. \u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff1a\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u9ad8\u9f62\u5316\u5730\u57df\u306e\u795e\u7d4c\u5185\u79d1\u5c02\u9580\u8a3a\u7642\u6240\u306b\u304a\u3051\u308b\u8840\u7ba1\u6027\u8a8d\u77e5\u75c7\u306e\u983b\u5ea6\uff0e\u7b2c35\u56de\u65e5\u672c\u8133\u5352\u4e2d\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u5ca9\u624b\uff0c2010\/4\/17<\/li>\n\n\n\n
                                                  2. \u938c\u7530\u6b63\u7d00\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff0c\u68b6\u9f8d\u5152*1\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff09\uff1a\u5bb6\u65cf\u6027ALS\u306b\u304a\u3051\u308bFUS\/TLS\u907a\u4f1d\u5b50\u5909\u7570\u306e\u983b\u5ea6\uff0c\u7b2c51\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u6771\u4eac\uff0c2010\/5\/20<\/li>\n\n\n\n
                                                  3. \u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff1a\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u5f53\u9662\u306b\u304a\u3051\u308b\u8a8d\u77e5\u75c7\u8a3a\u7642\u306e\u73fe\u6cc1\uff0e\u7b2c51\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u6771\u4eac\uff0c2010\/5\/22<\/li>\n\n\n\n
                                                  4. H Ito*1, M Nakamura*1, O Komure*2, H Maruyama, R Wate*1, Y Nakamura*1, K Fujita*1, S Kaneko*1, K Ogasawara*3, M Ihara*1, R Takahashi*4, R Kaji*5, A Hirano*6, H Kusaka*1, H Kawakami (*1 Kansai Medical University, *2South Osaka Neurosurgical Hospital, *3Shiga University of Medical Science, *4 Kyoto University, *5 University of Tokushima Graduate School, *6Montefiore Medical Center): Clinical and neuropathologic investigation of a family with ALS associated with mutated optineurin. 17th International Congress of Neuropathology. Salzburg, 2010\/9\/11<\/li>\n\n\n\n
                                                  5. \u7530\u4ee3\u8061\uff0c\u938c\u7530\u4e03\u7537\uff0c\u6728\u6751\u662d\u90ce\uff0c\u4e09\u539f\u572d\u4e00\u90ce\uff0c\u5927\u7027\u6148\uff0c\u661f\u6b63\u6cbb\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u795e\u8c37\u7814\u4e8c\uff1a\u5e83\u5cf6\u539f\u7206\uff12\u4e16\u306e\u89aa\u306e\u88ab\u3070\u304f\u7dda\u91cf\u306b\u3064\u3044\u3066\uff0e\u65e5\u672c\u653e\u5c04\u7dda\u5f71\u97ff\u5b66\u4f1a\u7b2c53\u56de\u5927\u4f1a\uff0e\u4eac\u90fd\uff0c2010\/10\/22<\/li>\n\n\n\n
                                                  6. \u4f50\u7af9\u6e09*1\uff0c\u4e2d\u6797\u7950\u5b50*1\uff0c\u6c34\u7530\u4f9d\u4e45\u5b50*1\uff0c\u4e45\u4fdd\u5145\u660e*2\uff0c\u5ddd\u53e3\u55ac\u4e45*2\uff0c\u89d2\u7530\u9054\u5f66*2\uff0c\u6e21\u908a\u96c5\u5f66*3\uff0c\u6b66\u7530\u7be4*4\uff0c\u5bcc\u5c71\u5f18\u5e78*5\uff0c\u4e2d\u5cf6\u5065\u4e8c*5\uff0c\u9577\u8c37\u5ddd\u4e00\u5b50*7\uff0c\u5c0f\u5e61\u6587\u5f25*8\uff0c\u5409\u5ddd\u6b66\u7537*2\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u4f50\u53e4\u7530\u4e09\u90ce*9\uff0c\u5c71\u672c\u5149\u5229*10\uff0c\u670d\u90e8\u4fe1\u5b5d*5\uff0c\u6751\u7530\u7f8e\u7a42*11\uff0c\u4e2d\u6751\u7950\u8f14*2\uff0c\u6238\u7530\u9054\u53f2*1\uff08*1\u795e\u6238\u5927\u5b66\uff0c*2\u7406\u5316\u7814\uff0c*3\u7b51\u6ce2\u5927\u5b66\uff0c*4\u6771\u5317\u5927\u5b66\uff0c*5\u9806\u5929\u5802\u5927\u5b66\uff0c*5\u9ce5\u53d6\u5927\u5b66\uff0c*7\u76f8\u6a21\u539f\u75c5\u9662\uff0c*8\u5317\u91cc\u5927\u5b66\uff0c*9\u5927\u962a\u5927\u5b66\uff0c*10\u9999\u5ddd\u770c\u7acb\u4e2d\u592e\u75c5\u9662\uff0c*11\u56fd\u7acb\u7cbe\u795e\u30fb\u795e\u7d4c\u30bb\u30f3\u30bf\u30fc\u75c5\u9662\uff0c\uff09\uff1a\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u95a2\u9023\u89e3\u6790\u306f\u3001\uff14\u3064\u306e\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u611f\u53d7\u6027\u907a\u4f1d\u5b50\u5ea7\u3092\u540c\u5b9a\u3057\u305f\uff0c\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u7b2c55\u56de\u5927\u4f1a\uff0c\u3055\u3044\u305f\u307e\uff0c2010\/10\/28<\/li>\n\n\n\n
                                                  7. \u4e38\u5c71\u535a\u6587\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4f0a\u6771\u79c0\u6587*1\uff0c\u548c\u6cc9\u552f\u4fe1*2\uff0c\u938c\u7530\u6b63\u7d00\uff0c\u677e\u6d66\u4f38\u4e5f\uff0c\u963f\u90e8\u5eb7\u4e8c*3\uff0c\u9752\u6728\u6b63\u5fd7*4\uff0c\u8429\u539f\u5f18\u4e00*5\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff0c*2\u5fb3\u5cf6\u5927\u5b66\uff0c*3\u5ca1\u5c71\u5927\u5b66\uff0c*4\u6771\u5317\u5927\u5b66\uff0c*5\u57fc\u7389\u533b\u79d1\u5927\u5b66\uff09\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\u306e\u540c\u5b9a\uff0c\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u7b2c55\u56de\u5927\u4f1a\uff0c\u3055\u3044\u305f\u307e\uff0c2010\/10\/28<\/li>\n\n\n\n
                                                  8. \u97f3\u90e8\u73b2\u5b50*1\uff0c\u52a0\u702c\u4f73\u5bff\u6c5f*1\uff0c\u5bb6\u8b77\u8c37\u4e94\u6708*1\uff0c\u5175\u982d\u9ebb\u5e0c*1\uff0c\u5927\u539f\u6b63\u88d5*1\uff0c\u6751\u4e0a\u8302*1\uff0c\u6a2a\u5d0e\u606d\u4e4b*1\uff0c\u6a9c\u5c71\u6842\u5b50\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u6a9c\u5c71\u82f1\u4e09*1\uff0c\u677e\u6d66\u4f38\u4e5f\uff0c\u5c0f\u6797\u6b63\u592b*1\uff08*1\u907a\u4f1d\u5b50\u8a3a\u7642\u90e8\uff09\uff1a\u5730\u57df\u3068\u9023\u643a\u3057\u305fHBOC\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u5c0e\u5165\u306b\u5411\u3051\u305f\u6d3b\u52d5\u5831\u544a\uff0c\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u7b2c55\u56de\u5927\u4f1a\uff0c\u3055\u3044\u305f\u307e\uff0c2010\/10\/30<\/li>\n\n\n\n
                                                  9. \u5009\u91cd\u6bc5\u5fd7*1\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e0a\u91ce\u5f18\u8cb4*1\uff0c\u6749\u672c\u592a\u8def*1\uff0c\u8d8a\u667a\u4e00\u79c0*1\uff0c\u7247\u5c71\u798e\u592b*2\uff0c\u5c71\u8107\u5065\u76db*1\uff0c\u90e1\u5c71\u9054\u7537*3\uff0c\u677e\u672c\u660c\u6cf0*1\uff08*1\u8133\u795e\u7d4c\u5185\u79d1\uff0c*2\u5e83\u5cf6\u897f\u533b\u7642\u30bb\u30f3\u30bf\u30fc\uff0c*3\u5e83\u5cf6\u5e02\u6c11\u75c5\u9662\uff09\uff1a\u767a\u4f5c\u6027\u547c\u5438\u969c\u5bb3\u304c\u554f\u984c\u3068\u306a\u3063\u305fNMO\u5256\u691c\u4f8b\uff0c\u7b2c\uff11\u56de\u65e5\u672c\u795e\u7d4c\u75c5\u7406\u5b66\u4f1a\u4e2d\u56fd\u56db\u56fd\u5730\u65b9\u4f1a\uff0c\u5b87\u90e8\uff0c2010\/10\/30<\/li>\n\n\n\n
                                                  10. Satake W*1, Nakabayashi Y*1, Mizuta I*1, Kubo M*2, Kawaguchi T*2, Tsunoda T*2, Watanabe M*3, Takeda A*4, Tomiyama H*5, Nakashima K*6, Hasegawa K*7, Obata F*8, Yoshikawa T*2, Kawakami H, Sakoda S*9, Yamamoto M*10, Hattori N*5, Murata M*11, Nakamura Y*2, Toda T*1 (*1 Kobe University, *2 RIKEN, *3 University of Tsukuba, *4 University of Tohoku, *5Juntendo University, *6 Tottori University, *7Sagamihara National Hospital, *8 Kitasato University, *9 Osaka University, *10Kagawa Prefectural Central Hospital, *11NCNP ): Genome-wide association study identifies variants at four loci as genetic risk factors for Parkinson\u2019s disease. 60th Annual Meeting of The American Society of Human Genetics, Washington DC, 2010\/11\/3<\/li>\n\n\n\n
                                                  11. H Maruyama, H Morino, H Ito*1, Y Izumi*2, M Kamada, K Hagiwara*3, K Abe*4, M Aoki*5, S Matsuura, H Kawakami (*1 Kansai Medical University, *2 University of Tokushima Graduate School, *3 Okayama University, *4Saitama Medical University, *5Tohoku University School of Medicine): Causative gene of amyotrophic lateral sclerosis: optineurin. 60th Annual Meeting of The American Society of Human Genetics, Washington DC, 2010\/11\/5<\/li>\n\n\n\n
                                                  12. \u5bae\u5730\u9686\u53f2*1\uff0c\u77f3\u539f\u611b\u5b50*1\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u4e09\u68ee\u5eb7\u4e16*2\uff0c\u677e\u672c\u660c\u6cf0*1\uff08*1\u8133\u795e\u7d4c\u5185\u79d1\uff0c*2\u5e83\u5cf6\u56fd\u969b\u5927\u5b66\uff09\uff1a\u5e83\u5cf6\u770c\u306b\u304a\u3051\u308b\u8a8d\u77e5\u75c7\u5bfe\u7b56\u306e\u73fe\u72b6\u3068\u8ab2\u984c\uff0c\u7b2c29\u56de\u65e5\u672c\u8a8d\u77e5\u75c7\u5b66\u4f1a\u5b66\u8853\u96c6\u4f1a\uff0c\u540d\u53e4\u5c4b\uff0c2010\/11\/5<\/li>\n\n\n\n
                                                  13. \u548c\u6cc9\u552f\u4fe1*1\uff0c\u7e54\u7530\u96c5\u4e5f*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u9ad8\u9f62\u5316\u5730\u57df\u306b\u304a\u3051\u308b\u982d\u75db\u60a3\u8005\u306e\u53d7\u8a3a\u72b6\u6cc1\uff0c\u7b2c38\u56de\u65e5\u672c\u982d\u75db\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u6771\u4eac\uff0c2010\/11\/20<\/li>\n\n\n\n
                                                  14. \u4f50\u7af9\u6e09*1\uff0c\u4e2d\u6797\u7950\u5b50*1\uff0c\u6c34\u7530\u4f9d\u4e45\u5b50*1\uff0c\u4e45\u4fdd\u5145\u660e*2\uff0c\u5ddd\u53e3\u55ac\u4e45*2\uff0c\u89d2\u7530\u9054\u5f66*2\uff0c\u6e21\u908a\u96c5\u5f66*3\uff0c\u6b66\u7530\u7be4*4\uff0c\u5bcc\u5c71\u5f18\u5e78*5\uff0c\u4e2d\u5cf6\u5065\u4e8c*5\uff0c\u9577\u8c37\u5ddd\u4e00\u5b50*7\uff0c\u5c0f\u5e61\u6587\u5f25*8\uff0c\u5409\u5ddd\u6b66\u7537*2\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u4f50\u53e4\u7530\u4e09\u90ce*9\uff0c\u5c71\u672c\u5149\u5229*10\uff0c\u670d\u90e8\u4fe1\u5b5d*5\uff0c\u6751\u7530\u7f8e\u7a42*11\uff0c\u4e2d\u6751\u7950\u8f14*2\uff0c\u6238\u7530\u9054\u53f2*1\uff08*1\u795e\u6238\u5927\u5b66\uff0c*2\u7406\u5316\u7814\uff0c*3\u7b51\u6ce2\u5927\u5b66\uff0c*4\u6771\u5317\u5927\u5b66\uff0c*5\u9806\u5929\u5802\u5927\u5b66\uff0c*5\u9ce5\u53d6\u5927\u5b66\uff0c*7\u76f8\u6a21\u539f\u75c5\u9662\uff0c*8\u5317\u91cc\u5927\u5b66\uff0c*9\u5927\u962a\u5927\u5b66\uff0c*10\u9999\u5ddd\u770c\u7acb\u4e2d\u592e\u75c5\u9662\uff0c*11\u56fd\u7acb\u7cbe\u795e\u30fb\u795e\u7d4c\u30bb\u30f3\u30bf\u30fc\u75c5\u9662\uff0c\uff09\uff1a\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u95a2\u9023\u89e3\u6790\u306f\u3001\uff14\u3064\u306e\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u611f\u53d7\u6027\u907a\u4f1d\u5b50\u5ea7\u3092\u540c\u5b9a\u3057\u305f\uff0c\u7b2c33\u56de\u65e5\u672c\u5206\u5b50\u751f\u7269\u5b66\u4f1a\u5e74\u4f1a\uff0c\u795e\u6238\uff0c2010\/12\/7<\/li>\n\n\n\n
                                                  15. H Maruyama, H Morino, H Ito*1, Y Izumi*2, K Hagiwara*3, T Takumi*4, H Kawakami (*1 Kansai Medical University, *2 University of Tokushima Graduate School, *3Saitama Medical University, *4Laboratory of Integrated Bioscience): New causative gene of amyotrophic lateral sclerosis: Optineurin. \u7b2c33\u56de\u65e5\u672c\u5206\u5b50\u751f\u7269\u5b66\u4f1a\u5e74\u4f1a\uff0c\u795e\u6238\uff0c2010\/12\/10<\/li>\n<\/ol>\n\n\n\n

                                                    \uff23\uff0e\u305d\u306e\u4ed6<\/h4>\n\n\n\n
                                                      \n
                                                    1. \u5ddd\u4e0a\u79c0\u53f2\uff1aMutations of optineurin in amyotrophic lateral sclerosis\uff0e\u30b7\u30f3\u30dd\u30b8\u30a6\u30e0\u300c\u795e\u7d4c\u30b2\u30ce\u30df\u30af\u30b9\u306e\u6700\u5148\u7aef\u300d\u7b2c51\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u6771\u4eac\uff0c2010\/5\/22<\/li>\n\n\n\n
                                                    2. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff1aDNA\u5909\u7570\u306e\u691c\u51fa\u6cd5\u3000\u9ad8\u5bc6\u5ea6SNP chip\u3068\u5bb6\u7cfb\u3092\u7528\u3044\u3066\uff0e\u7b2c\uff16\u56de\u5e83\u5cf6\u5927\u5b66\u30fb\u9577\u5d0e\u5927\u5b66\u9023\u643a\u7814\u7a76\u4e8b\u696d\u30ab\u30f3\u30d5\u30a1\u30e9\u30f3\u30b9\uff08\u5831\u544a\u66f8p27-29\uff09\uff0e\u9577\u5d0e, 2010\/6\/5<\/li>\n\n\n\n
                                                    3. \u51a8\u7530\u54f2\u6cbb\uff0c\u4f50\u85e4\u5065\u4e00\uff0c\u5927\u8c37\u656c\u5b50\uff0c\u4f50\u85e4\u88d5\u54c9\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u661f\u6b63\u6cbb\uff0c\u5927\u7027\u6148\uff1a\u5e83\u5cf6\u539f\u7206\u88ab\u7206\u8005\u30b3\u30db\u30fc\u30c8\u306b\u304a\u3051\u308b\u88ab\u7206\u6642\u6240\u5728\u5730\u306b\u57fa\u3065\u304f\u6b7b\u4ea1\u5371\u967a\u5ea6\u5730\u56f3\u4f5c\u6210\u306e\u8a66\u307f\uff0e\u7b2c51\u56de\u539f\u5b50\u7206\u5f3e\u5f8c\u969c\u5bb3\u7814\u7a76\u4f1a\uff0e\u9577\u5d0e\uff0c2010\/6\/6<\/li>\n\n\n\n
                                                    4. \u4f50\u85e4\u88d5\u54c9\uff0c\u661f\u6b63\u6cbb\uff0c\u5927\u7027\u6148\uff0c\u539f\u61b2\u884c\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1a\u5e83\u5cf6\u539f\u7206\u95a2\u9023\u5730\u56f3\u8cc7\u6599\u306e\u30c7\u30b8\u30bf\u30eb\u5316\uff0e\u7b2c51\u56de\u539f\u5b50\u7206\u5f3e\u5f8c\u969c\u5bb3\u7814\u7a76\u4f1a\uff0e\u9577\u5d0e\uff0c2010\/6\/6<\/li>\n\n\n\n
                                                    5. \u938c\u7530\u4e03\u7537\uff0c\u7530\u4ee3\u8061\uff0c\u6728\u6751\u662d\u90ce\uff0c\u4e09\u539f\u572d\u4e00\u6717\uff0c\u5927\u7027\u6148\uff0c\u661f\u6b63\u6cbb\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u795e\u8c37\u7814\u4e8c\uff1a\u5e83\u5cf6\u770c\u5185\u539f\u7206\u88ab\u7206\u8005\u306e\u5b50\u4f9b\u6570\uff0e\u7b2c51\u56de\u539f\u5b50\u7206\u5f3e\u5f8c\u969c\u5bb3\u7814\u7a76\u4f1a\uff0e\u9577\u5d0e\uff0c2010\/6\/6<\/li>\n\n\n\n
                                                    6. \u5ddd\u4e0a\u79c0\u53f2\uff1aALS\u65b0\u898f\u75c5\u56e0\u907a\u4f1d\u5b50optineurin\uff0e\u539a\u751f\u52b4\u50cd\u7701\u79d1\u5b66\u7814\u7a76\u8cbb\u88dc\u52a9\u91d1\uff08\u96e3\u6cbb\u6027\u75be\u60a3\u514b\u670d\u7814\u7a76\u4e8b\u696d\uff09\u5e73\u621022\u5e74\u5ea6\u300c\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u75c5\u614b\u306b\u57fa\u3065\u304f\u753b\u671f\u7684\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u300d\u73ed\u30ef\u30fc\u30af\u30b7\u30e7\u30c3\u30d7\uff0e\u6771\u4eac\uff0c2010\/6\/18<\/li>\n\n\n\n
                                                    7. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u6c42\u3081\u3066\uff0e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3092\u8003\u3048\u308b\u4f1a\uff0c\u76f8\u6a21\u539f\uff0c2010\/6\/28<\/li>\n\n\n\n
                                                    8. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u306e\u9451\u5225\u8a3a\u65ad\u3068\u6cbb\u7642\uff0e\u7b2c81\u56de\u5c3e\u9053\u5730\u533a\u5185\u79d1\u4f1a\uff0c\u5c3e\u9053\uff0c2010\/7\/16<\/li>\n\n\n\n
                                                    9. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u7530\u4e2d\u82f1\u53f8\uff0c\u938c\u7530\u6b63\u7d00\uff1a\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306b\u5bfe\u3059\u308b\u55ab\u7159\u306e\u5f71\u97ff\u2014\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u907a\u4f1d\u8981\u56e0\u306e\u5074\u9762\u304b\u3089\uff0e\u7b2c25\u56de\u5e73\u621021\u5e74\u5ea6\u52a9\u6210\u7814\u7a76\u767a\u8868\u4f1a\uff08\u5e73\u621021\u5e74\u5ea6\u55ab\u7159\u79d1\u5b66\u7814\u7a76\u8ca1\u56e3\u7814\u7a76\u5e74\u5831p496-499\uff09\uff0e\u6771\u4eac\uff0c2010\/7\/28<\/li>\n\n\n\n
                                                    10. \u4e38\u5c71\u535a\u6587\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4f0a\u6771\u79c0\u6587\uff0c\u548c\u6cc9\u552f\u4fe1\uff0c\u8429\u539f\u5f18\u4e00\uff0c\u5185\u5320\u900f\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\uff0e\u5e73\u621022\u5e74\u5ea6\u300c\u5305\u62ec\u578b\u8133\u79d1\u5b66\u7814\u7a76\u63a8\u9032\u652f\u63f4\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u300d\u590f\u306e\u30ef\u30fc\u30af\u30b7\u30e7\u30c3\u30d7\uff0e\u672d\u5e4c\uff0c2010\/7\/29<\/li>\n\n\n\n
                                                    11. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u30aa\u30d7\u30c1\u30cb\u30e5\u30fc\u30ea\u30f3\u306e\u540c\u5b9a\u306b\u3064\u3044\u3066\uff0e\u7b2c13\u56deOosaka Neurology Forum\uff0e\u5927\u962a, 2010\/8\/26\uff0e<\/li>\n\n\n\n
                                                    12. \u5ddd\u4e0a\u79c0\u53f2\uff1aOPTN\u5909\u7570\u3092\u4f34\u3063\u305fALS\uff0e\u7b2c\uff11\u56deALS\u30d5\u30a9\u30fc\u30e9\u30e0\uff08\u7b2c\uff11\u56deALS\u30d5\u30a9\u30fc\u30e9\u30e0\u8a18\u9332\u96c6p10-12\uff09\uff0c\u6771\u4eac\uff0c2010\/8\/28<\/li>\n\n\n\n
                                                    13. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50optineurin\u3068\u305d\u308c\u306b\u57fa\u3065\u304f\u6cbb\u7642\u85ac\u306e\u958b\u767a\uff0e\u5e83\u5cf6\u5927\u5b66\u65b0\u6280\u8853\u8aac\u660e\u4f1a\uff0c\u5927\u962a\uff0c2010\/9\/7<\/li>\n\n\n\n
                                                    14. \u5ddd\u4e0a\u79c0\u53f2\u3001\u4e38\u5c71\u535a\u6587\u3001\u68ee\u91ce\u8c4a\u4e4b\uff1a\u539f\u7206\u88ab\u7206\u8005\u306e\u514d\u75ab\u6a5f\u80fd\u306b\u95a2\u3059\u308b\u7814\u7a76\uff08\u5e73\u621021\u5e74\u5ea6\u539a\u751f\u52b4\u50cd\u7701\u59d4\u8a17\u4e8b\u696d\u3001\u539f\u7206\u75c7\u8abf\u67fb\u7814\u7a76\u4e8b\u696d\u5831\u544a\u66f8p29-30\uff09<\/li>\n\n\n\n
                                                    15. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u9ad8\u9f62\u8005\u306e\u57fa\u672c\u7684\u7406\u89e3\uff0e\u5e73\u621022\u5e74\u5ea6\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u578b\u30b5\u30fc\u30d3\u30b9\u4e8b\u696d\u958b\u8a2d\u8005\u7814\u4fee\uff0e\u5e83\u5cf6\uff0c2010\/9\/29<\/li>\n\n\n\n
                                                    16. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u7814\u7a76\u6d3b\u52d5\u7d39\u4ecb\u300c\u65b0\u305f\u306a\u5bb6\u65cf\u6027\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\u306e\u767a\u898b\u300d\u539f\u533b\u7814\u30cb\u30e5\u30fc\u30b9 Vol.1, p5-6\uff0c2010\/9\/30<\/li>\n\n\n\n
                                                    17. \u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff1aExcellent Paper\u300c\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\u306e\u767a\u898b\u300dHiroshima BiMeS News\u7b2c18\u53f7\uff0cp30<\/li>\n\n\n\n
                                                    18. \u5ddd\u4e0a\u79c0\u53f2\uff1aALS\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50optineurin\u306b\u3064\u3044\u3066\uff0e\u7b2c96\u56de\u4eac\u6ecb\u795e\u7d4c\u30bb\u30df\u30ca\u30fc\uff0e\u4eac\u90fd, 2010\/10\/1\uff0e<\/li>\n\n\n\n
                                                    19. \u4e38\u5c71\u535a\u6587\uff1a\u5e73\u621022\u5e74\u5ea6\u907a\u4f1d\u5b50\u7d44\u63db\u3048\u751f\u7269\u7b49\u4f7f\u7528\u5b9f\u9a13\u5b89\u5168\u8b1b\u7fd2\u4f1a\uff0e\u5e83\u5cf6\uff0c2010\/10\/8<\/li>\n\n\n\n
                                                    20. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50optineurin\u306e\u540c\u5b9a\uff0e\u57fc\u7389\u533b\u79d1\u5927\u5b66\u30b2\u30ce\u30e0\u533b\u5b66\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\u7b2c111\u56de\u5b66\u8853\u96c6\u4f1a\uff0e\u6bdb\u5442\u5c71\uff0c2010\/10\/14<\/li>\n\n\n\n
                                                    21. \u68ee\u91ce\u8c4a\u4e4b\uff1a\u9ad8\u5bc6\u5ea6SNP\u30a2\u30ec\u30a4\u3092\u5229\u7528\u3057\u305f\u907a\u4f1d\u6027\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\uff0e\u7b2c97\u56de\u539f\u533b\u7814\u30bb\u30df\u30ca\u30fc\uff0e\u5e83\u5cf6\uff0c2010\/10\/18<\/li>\n\n\n\n
                                                    22. \u4e38\u5c71\u535a\u6587\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\u306e\u540c\u5b9a\uff0e\u7b2c97\u56de\u539f\u533b\u7814\u30bb\u30df\u30ca\u30fc\uff0e\u5e83\u5cf6\uff0c2010\/10\/18<\/li>\n\n\n\n
                                                    23. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u5bb6\u65cf\u6027ALS\u306e\u539f\u56e0\u907a\u4f1d\u5b50optineurin\u306e\u767a\u898b\uff0e\u5ca1\u5c71\u795e\u7d4c\u5185\u79d1\u52c9\u5f37\u4f1a\uff0e\u5ca1\u5c71\uff0c2010\/10\/22<\/li>\n\n\n\n
                                                    24. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u65b0\u3057\u3044\u5bb6\u65cf\u6027ALS\u907a\u4f1d\u5b50\u306e\u767a\u898b\uff0e\u30b7\u30f3\u30dd\u30b8\u30a6\u30e0\u300c\u795e\u7d4c\u907a\u4f1d\u5b66\u300d\u7b2c55\u56de\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\uff0e\u3055\u3044\u305f\u307e\uff0c2010\/10\/29<\/li>\n\n\n\n
                                                    25. \u4e38\u5c71\u535a\u6587\uff1a\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u65b0\u898f\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\u306e\u540c\u5b9a\uff0e\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u5968\u52b1\u8cde\u53d7\u8cde\u8b1b\u6f14\uff0c\u7b2c55\u56de\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\uff0e\u3055\u3044\u305f\u307e\uff0c2010\/10\/29<\/li>\n\n\n\n
                                                    26. \u4e38\u5c71\u535a\u6587\uff1a\u9ad8\u9f62\u8005\u306b\u304a\u3051\u308b\u795e\u7d4c\u75be\u60a3\u2014\u8a8d\u77e5\u75c7\u3092\u4e2d\u5fc3\u306b\uff0e2010\u5e74\u5ea6\u533b\u5b66\u77e5\u8b58\u7fd2\u719f\u57fa\u790e\u7814\u4fee\uff0e\u798f\u5c71\uff0c2010\/11\/19<\/li>\n\n\n\n
                                                    27. \u4e38\u5c71\u535a\u6587\uff1a\u9ad8\u9f62\u8005\u306b\u304a\u3051\u308b\u795e\u7d4c\u75be\u60a3\u2014\u8a8d\u77e5\u75c7\u3092\u4e2d\u5fc3\u306b\uff0e2010\u5e74\u5ea6\u533b\u5b66\u77e5\u8b58\u7fd2\u719f\u57fa\u790e\u7814\u4fee\uff0e\u5e83\u5cf6\uff0c2010\/11\/22<\/li>\n\n\n\n
                                                    28. \u4e38\u5c71\u535a\u6587\uff1a\u6210\u4eba\u306e\u907a\u4f1d\u6027\u795e\u7d4c\u7b4b\u75be\u60a3\uff0e\u7b2c\uff13\u56de\u5e83\u5cf6\u81e8\u5e8a\u907a\u4f1d\u30bb\u30df\u30ca\u30fc\uff0e\u5e83\u5cf6\uff0c2010\/11\/22<\/li>\n\n\n\n
                                                    29. Hideshi Kawakami: Discovery of optineurin mutations in amyotrophic lateral sclerosis. BRI International Symposium 2010 (Current understandings and future directions for ALS). Niigata, 2010\/11\/23<\/li>\n\n\n\n
                                                    30. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u96e3\u75c5ALS\u3078\u306e\u6311\u6226\u2014\u30b2\u30ce\u30e0\u304b\u3089\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\uff0e\u5e83\u5cf6\u5927\u5b66\u7b2c33\u56de\u6771\u4eac\u30a4\u30d6\u30cb\u30f3\u30b0\u30bb\u30df\u30ca\u30fc\uff0e\u6771\u4eac\uff0c2010\/11\/26<\/li>\n\n\n\n
                                                    31. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u5275\u85ac\u30b7\u30fc\u30ba\u30fb\u57fa\u76e4\u6280\u8853\u30a2\u30e9\u30a4\u30a2\u30f3\u30b9\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3000\u795e\u7d4c\u7cfb\u75be\u60a3\u9818\u57df\u5546\u8ac7\u4f1a\uff0e\u5927\u962a\uff0c2010\/11\/30<\/li>\n\n\n\n
                                                    32. \u68b6\u9f8d\u5152*1\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff0c\u938c\u7530\u6b63\u7d00\uff0c\u4f0a\u6771\u79c0\u6587*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff0c*2\u4eac\u90fd\u5927\u5b66\uff09\uff1aoptineurin\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\uff0e\u5e73\u621022\u5e74\u5ea6\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306b\u95a2\u3059\u308b\u8abf\u67fb\u7814\u7a76\u73ed\u4f1a\u8b70\uff0e\u6771\u4eac\uff0c2010\/12\/17<\/li>\n\n\n\n
                                                    33. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u5bb6\u65cf\u6027ALS\u306e\u539f\u56e0\u907a\u4f1d\u5b50Optineurin\u306e\u540c\u5b9a\uff0e\u8fd1\u68ee\u75c5\u9662\u795e\u7d4c\u5185\u79d1\u30bb\u30df\u30ca\u30fc\uff0c\u9ad8\u77e5\uff0c2011\/1\/20<\/li>\n\n\n\n
                                                    34. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u30b5\u30dd\u30fc\u30c8\u533b\u306e\u5f79\u5272\uff0e\u5e73\u621022\u5e74\u5ea6\u7b2c\uff11\u56de\u8a8d\u77e5\u75c7\u30b5\u30dd\u30fc\u30c8\u533b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u7814\u4fee\u4f1a\uff0c\u5e83\u5cf6\uff0c2011\/1\/30<\/li>\n\n\n\n
                                                    35. \u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u7279\u767a\u6027\u6b63\u5e38\u5727\u6c34\u982d\u75c7\u3068\u76ae\u8cea\u4e0b\u8840\u7ba1\u6027\u8a8d\u77e5\u75c7\u306b\u304a\u3051\u308bMRI\u6240\u898b\u306e\u6bd4\u8f03\uff0e\u7b2c12\u56de\u65e5\u672c\u6b63\u5e38\u5727\u6c34\u982d\u75c7\u7814\u7a76\u4f1a\uff0c\u5343\u6b73\uff0c2011\/2\/12<\/li>\n\n\n\n
                                                    36. Hideshi Kawakami, Hirofumi Maruyama, Hidefumi Ito*1 (*1 Kansai Medical University): OPTN and Motor neuron disease. International Symposium on Motor Neuron Disease and Perry Syndrome in Tokyo. Tokyo, 2011\/2\/22<\/li>\n\n\n\n
                                                    37. Hideshi Kawakami, Hiroyuki Morino, Hirofumi Maruyama: Mutations of optineurin gene in ALS. \u5e83\u5cf6\u5927\u5b66\u539f\u7206\u653e\u5c04\u7dda\u533b\u79d1\u5b66\u7814\u7a76\u6240\u7b2c\uff11\u56de\u56fd\u969b\u30b7\u30f3\u30dd\u30b8\u30a6\u30e0\uff0e\u5e83\u5cf6\uff0c2011\/3\/3 \u4e38\u5c71\u535a\u6587\uff0c\u5bae\u5730\u9686\u53f2*1 (*1\u8133\u795e\u7d4c\u5185\u79d1)\uff1a\u7dcf\u5408\u8a0e\u8ad6\u300c\u533b\u7642\u30fb\u4ecb\u8b77\u9023\u643a\u306e\u3042\u308a\u65b9\u300d\uff0e\u5e73\u621022\u5e74\u5ea6\u7b2c\uff12\u56de\u8a8d\u77e5\u75c7\u30b5\u30dd\u30fc\u30c8\u533b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u7814\u4fee\u4f1a\uff0c\u5e83\u5cf6\uff0c2011\/3\/6<\/li>\n<\/ol>\n\n\n\n

                                                      2009\u5e74\u5ea6\u4ee5\u524d<\/h4>\n\n\n\n

                                                      \uff21\uff0e\u539f\u3000\u8457<\/h4>\n\n\n\n
                                                        \n
                                                      1. CP Zabetian*1, M Yamamoto*2, AN Lopez*1, H Ujike*3, IF Mata*1, Y Izumi*4, R Kaji*4, H Maruyama, H Morino, M Oda*5, CM Hutter*1, KL Edward*1, GD Schellenberg*1, DW Tsuang*6, D Yearout*1, EB Larson*1, H Kawakami (*1 University of Washington, *2 Kagawa Prefectural Center Hospital, *3 Okayama University, *4 University of Tokushima Graduate School, *5 Sumitomo Hospital, *6 Mental Illness Research Education and Clinical Center): LRRK2 mutations and risk variants in Japanese patients with Parkinson\u2019s disease. Movement Disorders, 24, 1034-1041, 2009<\/li>\n\n\n\n
                                                      2. M Kamada, H Maruyama, E Tanaka, H Morino, R Wate*1, H Ito*1, H Kusaka*1, Y Kawano*2, T Miki*2, H Nodera*3, Y Izumi*3, R Kaji*3, H Kawakami (*1 Kansai Medical University, *2 Ehime University Graduate School of Medicine, *3 University of Tokushima Graduate School): Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis. Journal of the Neurological Sciences, 284, 69-71, 2009<\/li>\n\n\n\n
                                                      3. Satake W*1, Nakabayashi Y*1, Mizuta I*1, Hirota Y*1, Ito C*1, Kubo M*2, Kawaguchi T*2, Tsunoda T*2, Watanabe M*3, Takeda A*4, Tomiyama H*5, Nakashima K*6, Hasegawa K*7, Obata F*8, Yoshikawa T*2, Kawakami H, Sakoda S*9, Yamamoto M*10, Hattori N*5, Murata M*11, Nakamura Y*2, Toda T*1 (*1 Kobe University, *2 RIKEN, *3 University of Tsukuba, *4 University of Tohoku, *5Juntendo University, *6 Tottori University, *7Sagamihara National Hospital, *8 Kitasato University, *9 Osaka University, *10Kagawa Prefectural Central Hospital, *11NCNP ): Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson\u2019s disease. Nature Genetics, 41, 1303-1307, 2009<\/li>\n\n\n\n
                                                      4. Inoue N*1, Maeda R*1, Kawakami H, Shokawa T*1, Yamamoto H*1, Ito C*1, Sasaki H*1 (*1Hiroshima City Medical Association Clinical Laboratory Center): Aortic pulse wave velocity predicts cardiovascular mortality in middle-aged and elderly Japanese men. Circulation J. 73, 549-553, 2009<\/li>\n\n\n\n
                                                      5. K Craig*1, Y Takiyama*2, BW Soong*3, LB Jardim*4, ML Saraiva-Pereira*4, K Lythgo*1, H Morino, H Maruyama, H Kawakami, PF Chinnery*1 (*1University of Newcastle upon Tyne, *2Jichi Medical School, *3National Yang-Ming University, Hospital de Clinicas de Porto Allegre) : Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome? Eur J Hum Genet, 16, 841-847, 2008<\/li>\n\n\n\n
                                                      6. S Tsuji*1, O Onodera*2, J Goto*1, M Nishizawa*2, The study group on ataxic diseases (H Kawakami) (*1Tokyo University, *2Niigata University) : Sporadic ataxias in Japan \u2013 a population-based epidemiological study. Cerebellum, 7, 189-197, 2008<\/li>\n\n\n\n
                                                      7. CP Zabetian*1, M Yamamoto*2, AN Lopez*1, H Ujike*3, IF Mata*1, Y Izumi*4, R Kaji*4, H Maruyama, H Morino, M Oda*5, CM Hutter*1, KL Edward*1, GD Schellenberg*1, DW Tsuang*6, D Yearout*1, EB Larson*1, H Kawakami (*1 University of Washington, *2 Kagawa Prefectural Center Hospital, *3 Okayama University, *4 University of Tokushima Graduate School, *5 Sumitomo Hospital, *6 Mental Illness Research Education and Clinical Center): LRRK2 mutations and risk variants in Japanese patients with Parkinson\u2019s disease. Movement Disorders, in press.<\/li>\n\n\n\n
                                                      8. E Tanaka, H Maruyama, H Morino, E Nakajima, H Kawakami: The CNTN4 c.4256C>T mutation is Rare in Japanese with Inherited Spinocerebellar Ataxia. J Neurol Sci, 266, 180-181, 2008 (I)<\/li>\n\n\n\n
                                                      9. Tanimoto S*1, Tamura H*1, Ue T*1, Yamane K*1, Maruyama H, Kawakami H, Kiuchi Y*1\uff08*1 Department of Ophthalmology and Visual Science\uff09: A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population. Neurosci Lett. 414, 71-74, 2007.<\/li>\n\n\n\n
                                                      10. Maraganore DM*1, de Andrade M*2, Elbaz A*2, Farrer MJ*2, Ioannidis JP*2, Kruger R*2, Rocca WA*2, Schneider NK*2, Lesnick TG*2, Lincoln SJ*2, Hulihan MM*2, Aasly JO*2, Ashizawa T*2, Chartier-Harlin MC*2, Checkoway H*2, Ferrarese C*2, Hadjigeorgiou G*2, Hattori N*2, Kawakami H, Lambert JC*2, Lynch T*2, Mellick GD*2, Papapetropoulos S*2, Parsian A*2, Quattrone A*2, Riess O*2, Tan EK*2, Van Broeckhoven C*2. (*1 Mayo Clinic College of Medicine, *2 Genetic Epidemiology of Parkinson’s Disease (GEO-PD) Consortium): Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA, 296, 661-670, 2006<\/li>\n\n\n\n
                                                      11. A Elbaz*1, LM Nelson*2, H Payami*3, JPA Ioannidis*4, BK Fiske*5, G Annesi*6, AC Belin*7, SA Factor*8, C Ferrarese*9, GM Hadjigeorgiou*10, DS Higgins*11, H Kawakami, R Kr\u00fcger*12, KS Marder*13, RP Mayeux*14, GD Mellick*14, JG Nutt*15, B Ritz*16, A Samii*17, CM Tanner*18, CV Broeckhoven*19, SKVD Eeden*20, K Wirdefeldt*7, CP Zabetian*21, M Dehem*22, JS Montimurro*3, A Southwick*2, RM Myerz*2, TA Trikalinos*4 (*1 INSERM, *2 Stanford University School of Medicine, *3 New York State Department of Health, *4 University of Ioannina School of Medicine, *5 The Michael J Fox Foundation for Parkinson’s Research, *6 National Research Council, *7 Karolinska Institutet, *8 Emory University School of Medicine, *9, University of Milano-Bicocca Ospedale, *10 University of Thessaly, *11 Albany Medical Center, *12 University of T\u00fcbingen, *13 The Gertrude H Sergivesky Center, *14 Griffith University, *15 Oregon Health & Science University, *16 UCLA School of Public Health, *17 VA Puget Sound Health Care System, *18 The Parkinson’s Institute, *19 Flanders Interuniversity Institute for Biotechnology, *20 Kaiser Foundation Research Institute, *21 University of Washington, *22 Genoscreen): Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson’s disease: a large-scale international study. Lancet Neurol, 5, 917-923, 2006.<\/li>\n\n\n\n
                                                      12. CP Zabetian*1, H Morino, H Ujike*2, M Yamamoto*3, M Oda*4, H Maruyama, Y Izumi*5, R Kaji*5, A Griffith*6, BC Leis*6, JW Roberts*7, D Yearout*1, A Samii*1, H Kawakami (*1 University of Washington School of Medicine, *2 Okayama University, *3 Kagawa Prefectural Center Hospital, *4 Sumitomo Hospital, *5 University of Tokushima Graduate School, *6 Evergreen Hospital Medical Center, *7 Virginia Mason Medical Center) : Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease. Neurology, 67, 697-699, 2006.<\/li>\n\n\n\n
                                                      13. Tamura H*1, Kawakami H, Kanamoto T*1, Kato T*1, Yokoyama T*1, Sasaki K*2, Izumi Y*3, Matsumoto M*4, Mishima HK*1 (*1 Department of Ophthalmology and Visual Science,* 2 Kinoko Espoir Hospital, *3 Vihara Hananosato Hospital, *4 Department of Clinical Neuroscience and Therapeutics) High frequency of open-angle glaucoma in Japanese patients with Alzheimer’s disease. J Neurol Sci., 246, 79-83, 2006.<\/li>\n\n\n\n
                                                      14. Hiramoto K*1, Kawakami H, Inoue K*2, Seki T*1, Maruyama H, Morino H, Matsumoto M*3, Kurisu K*4, Sakai N*1 (*1 Department of Molecular and Pharmacological Neuroscience, *2 Hyogo Rehabilitation Center Hospital, *3 Department of Clinical Neuroscience and Therapeutics, *4 Department of Neurosurgery) : Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. Movement Disorders, 21, 1355-1360, 2006.<\/li>\n\n\n\n
                                                      15. Ito H, Kawakami H, Wate R, Matsumoto S, Imai T, Hirano A, Kusaka H. Clinicopathologic investigation of a family with expanded SCA8 CTA\/CTG repeats. Neurology 67: 1479-1481, 2006<\/li>\n\n\n\n
                                                      16. \u97f3\u90e8\u73b2\u5b50*1\u3001\u5bb6\u8b77\u8c37\u4e94\u6708*1\u3001\u4e38\u5c71\u535a\u6587\u3001\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u907a\u4f1d\u5b50\u8a3a\u7642\u90e8\uff09\uff1a\u907a\u4f1d\u6027\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7\uff16\u578b(SCA6)\u306e\u767a\u75c7\u524d\u8a3a\u65ad\uff0e\u6cbb\u7642\u5b66\uff0c43, 332-334, 2009<\/li>\n\n\n\n
                                                      17. \u938c\u7530\u4e03\u7537*1\u3001\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5e83\u5cf6\u5927\u5b66\uff09\uff1a0.5Sv\u4ee5\u4e0a\u306e\u6b8b\u7559\u653e\u5c04\u7dda\u306b\u88ab\u66dd\u3057\u305f\u3068\u63a8\u5b9a\u3055\u308c\u308b\u4e8b\u4f8b\u30fc\u767d\u8840\u7403\u6570\u3068\u67d3\u8272\u4f53\u7570\u5e38\u7387\u304b\u3089\u306e\u691c\u8a3c\u30fc\uff0e\u5e83\u5cf6\u533b\u5b66\uff0c61\uff0c367-370\uff0c2008<\/li>\n\n\n\n
                                                      18. \u4e38\u5c71\u535a\u6587\u3001\u85e4\u6c38\u6b63\u679d*1\u3001\u5bae\u5730\u9686\u53f2*1\u3001\u52a0\u85e4\u4e45\u7f8e*1\u3001\u6851\u7530\u5be7\u5b50*1\u3001\u9ad8\u5cf6\u4e09\u679d\u5b50*1\u3001\u677e\u672c\u660c\u6cf0*1\uff08*1\u96e3\u75c5\u5bfe\u7b56\u30bb\u30f3\u30bf\u30fc\uff09\uff1a\u5728\u5b85\u4eba\u5de5\u547c\u5438\u5668\u4f7f\u7528\u60a3\u8005\u306e\u707d\u5bb3\u6642\u5bfe\u5fdc\u30fc\u707d\u5bb3\u6642\u306e\u6e96\u5099\u72b6\u6cc1\u306b\u95a2\u3059\u308b\u8a2a\u554f\u8abf\u67fb\u3092\u8e0f\u307e\u3048\u3066\u30fc\uff0e\u5e83\u5cf6\u533b\u5b66\uff0c61\uff0c590-593\uff0c2008<\/li>\n\n\n\n
                                                      19. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u75c5\u306e\u907a\u4f1d\u7684\u5371\u967a\u56e0\u5b50\uff0e\u8001\u5e74\u671f\u75f4\u5446\u7814\u7a76\u4f1a\u8a8c\uff0c14, 39-41, 2007<\/li>\n<\/ol>\n\n\n\n

                                                        \uff22\uff0e\u5b66\u4f1a\u767a\u8868<\/h4>\n\n\n\n
                                                          \n
                                                        1. \u938c\u7530\u6b63\u7d00\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u7530\u4e2d\u82f1\u53f8\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4f0a\u6771\u79c0\u6587*1\uff0c\u65e5\u4e0b\u535a\u6587*2\uff0c\u91ce\u5bfa\u88d5\u4e4b*3\uff0c\u548c\u6cc9\u552f\u4fe1*3\uff0c\u68b6\u9f8d\u5152*3\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u4eac\u90fd\u5927\u5b66\uff0c*2\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff0c*3\u5fb3\u5cf6\u5927\u5b66\uff09\uff1a\u5bb6\u65cf\u6027ALS\u304a\u3088\u3073\u5b64\u767a\u6027ALS\u306b\u304a\u3051\u308bTARDBP\u907a\u4f1d\u5b50\u5909\u7570\u306e\u983b\u5ea6\u691c\u7d22\uff0c\u7b2c50\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u4ed9\u53f0\uff0c2009\/5\/20<\/li>\n\n\n\n
                                                        2. \u5bae\u5d0e\u7531\u9053*1\uff0c\u5bae\u57ce\u611b*1\uff0c\u5cf6\u8c37\u4f73\u5149*1\uff0c\u6d45\u6cbc\u5149\u592a\u90ce*1\uff0c\u91ce\u5bfa\u88d5\u4e4b*1\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff0c\u68b6\u9f8d\u5152*1\uff0c\u5ddd\u897f\u5065\u767b*1\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff09\uff1aSOD1\u907a\u4f1d\u5b50\u5909\u7570(G93S)\u3092\u3068\u3082\u306a\u3063\u305f\u5bb6\u65cf\u6027\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\uff11\u5bb6\u7cfb\uff0c\u7b2c86\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u4e2d\u56fd\u30fb\u56db\u56fd\u5730\u65b9\u4f1a\uff0c\u5e83\u5cf6\uff0c2009\/6\/27<\/li>\n\n\n\n
                                                        3. \u68ee\u91ce\u8c4a\u4e4b\uff0c\u7530\u4e2d\u82f1\u53f8\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff09\uff1a\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7\u306e\u75c5\u578b\u5225\u983b\u5ea6\u306e\u691c\u8a0e\uff0c\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u7b2c54\u56de\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2009\/9\/24<\/li>\n\n\n\n
                                                        4. \u4e38\u5c71\u535a\u6587\uff0c\u938c\u7530\u6b63\u7d00\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u7530\u4e2d\u82f1\u53f8\uff0c\u548c\u624b\u9e97\u9999*1\uff0c\u4f0a\u6771\u79c0\u6587*1\uff0c\u65e5\u4e0b\u535a\u6587*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff09\uff1a\u65e5\u672c\u4eba\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306b\u304a\u3051\u308bTARDBP\u5909\u7570\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff0c\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u7b2c54\u56de\u5927\u4f1a\uff0c\u6771\u4eac\uff0c2009\/9\/26<\/li>\n\n\n\n
                                                        5. \u4e2d\u6751\u8056\u9999*1\uff0c\u4f0a\u6771\u79c0\u6587*2\uff0c\u671d\u5c71\u771f\u54c9*1\uff0c\u4e2d\u6751\u6b63\u5b5d*1\uff0c\u897f\u4e95\u8aa0*1\uff0c\u85e4\u7530\u8ce2\u543e*1\uff0c\u548c\u624b\u9e97\u9999*1\uff0c\u91d1\u5b50\u92ed*1\uff0c\u4e2d\u91ce\u667a*1\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u65e5\u4e0b\u535a\u6587*1\uff08*1\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff0c*2\u4eac\u90fd\u5927\u5b66\uff09\uff1aI113T\u5909\u7570\u3092\u6301\u3064\u5bb6\u65cf\u6027ALS\u306e\u5256\u691c\u4f8b\uff0c\u7b2c37\u56de\u81e8\u5e8a\u795e\u7d4c\u75c5\u7406\u61c7\u8a71\u4f1a\uff0c\u59eb\u8def\uff0c2009\/11\/7<\/li>\n\n\n\n
                                                        6. \u4f50\u85e4\u88d5\u54c9\uff0c\u661f\u6b63\u6cbb\uff0c\u5927\u7027\u6148\uff0c\u4e38\u5c71\u535a\u6587\uff0cHM Cullings*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u653e\u5f71\u7814\uff09\uff1a\u5730\u7406\u60c5\u5831\u30b7\u30b9\u30c6\u30e0\u3092\u7528\u3044\u305f\u5e83\u5cf6\u539f\u7206\u88ab\u7206\u8005\u4f4d\u7f6e\u60c5\u5831\u306e\u9ad8\u7cbe\u5ea6\u5316\uff0e\u65e5\u672c\u653e\u5c04\u7dda\u5f71\u97ff\u5b66\u4f1a\u7b2c52\u56de\u5927\u4f1a\uff0e\u5e83\u5cf6\uff0c2009\/11\/13<\/li>\n\n\n\n
                                                        7. \u7e54\u7530\u96c5\u4e5f*1\uff0c\u4f0a\u85e4\u8056*1\uff0c\u65e5\u5730\u6b63\u5178*1\uff0c\u4e2d\u6751\u6bc5*2\uff0c\u5bae\u5730\u9686\u53f2*2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff08*1\u4e09\u6b21\u795e\u7d4c\u5185\u79d1\u30af\u30ea\u30cb\u30c3\u30af\uff0c*2\u8133\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u5f53\u9662\u306b\u304a\u3051\u308b\u8a8d\u77e5\u75c7\u8a3a\u7642\u306e\u73fe\u6cc1\uff0e\u7b2c28\u56de\u65e5\u672c\u8a8d\u77e5\u75c7\u5b66\u4f1a\u7dcf\u4f1a\uff0e\u4ed9\u53f0\uff0c2009\/11\/21<\/li>\n\n\n\n
                                                        8. \u548c\u624b\u9e97\u9999*1\uff0c\u897f\u4e95\u8aa0*1\uff0c\u671d\u5c71\u77e5\u5b50*1\uff0c\u4e2d\u6751\u6b63\u5b5d*1\uff0c\u4f0a\u6771\u79c0\u6587*1\uff0c\u91d1\u5b50\u92ed*1\uff0c\u4e2d\u91ce\u667a*1\uff0c\u938c\u7530\u6b63\u7d00\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u65e5\u4e0b\u535a\u6587*1\uff08*1\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff09\uff1aTDP-43 N352S\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3092\u8a8d\u3081\u305f\u5bb6\u65cf\u6027ALS\u306e\u4e00\u4f8b\uff0e\u7b2c91\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u8fd1\u757f\u5730\u65b9\u4f1a\uff0c\u4eac\u90fd\uff0c2009\/12\/5<\/li>\n\n\n\n
                                                        9. \u7530\u4e2d\u82f1\u53f8\u3001\u68ee\u91ce\u8c4a\u4e4b\u3001\u4e38\u5c71\u535a\u6587\u3001\u5ddd\u4e0a\u79c0\u53f2\uff1a\u907a\u4f1d\u6027\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c715\u578b(SCA15)\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff0c\u7b2c49\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u6a2a\u6d5c\uff0c2008<\/li>\n\n\n\n
                                                        10. \u85e4\u4e95\u88d5\u6a39*1\u3001\u6751\u4e0a\u5584\u751f*1\u3001\u91ce\u7530\u516c\u4e00*1\u3001\u5ddd\u4e0a\u79c0\u53f2\u3001\u4e38\u5c71\u535a\u6587\u3001\u68ee\u91ce\u8c4a\u4e4b\uff08*1\u6771\u5e83\u5cf6\u533b\u7642\u30bb\u30f3\u30bf\u30fc\u795e\u7d4c\u5185\u79d1\uff09\uff1a\u4e00\u904e\u6027\u306e\u69cb\u97f3\u969c\u5bb3\u3001\u53f3\u9854\u9762\u795e\u7d4c\u9ebb\u75fa\u3067\u767a\u75c7\u3057\u305fX-linked Charcot-Marie-Tooth disease (CMTX)\uff0c\u7b2c84\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u4e2d\u56fd\u56db\u56fd\u5730\u65b9\u4f1a\uff0c\u7c73\u5b50\uff0c2008<\/li>\n\n\n\n
                                                        11. CP. Zabetian*1, H Ujike*2, H Morino, M Yamamoto*3, M Oda*4, H Maruyama, Y Izumi*5, R Kaji*5, IF. Mata*1, SK. Ayres*1, GD. Schellenberg*1, EB. Larson*1, H Kawakami, (*1 University of Washington School of Medicine, *2 Okayama University, *3 Kagawa Prefectural Center Hospital, *4 Sumitomo Hospital, *5 University of Tokushima Graduate School): Comprehensive Analysis of the LRRK2 Gene in Japanese Patients with Parkinson’s Disease. 59th American Academy of Neurology Annual Meeting. Boston, 2007.<\/li>\n\n\n\n
                                                        12. \u68ee\u91ce\u8c4a\u4e4b\u3001\u4e38\u5c71\u535a\u6587\u3001\u548c\u6cc9\u552f\u4fe1*1\u3001\u7e54\u7530\u96c5\u4e5f*2\u3001\u5bfa\u6fa4\u82f1\u592b*3\u3001\u7530\u8def\u6d69\u6b63*3\u3001\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\u3001*2\u4f4f\u53cb\u75c5\u9662\u3001*3\u4e2d\u56fd\u52b4\u707d\u75c5\u9662\uff09\uff1a\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c71836\u4f8b\u306e\u75c5\u578b\u5206\u985e\u3068\u5730\u57df\u5225\u75c5\u578b\u983b\u5ea6\u306e\u691c\u8a0e\uff0c\u7b2c48\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u540d\u53e4\u5c4b\uff0c2007<\/li>\n\n\n\n
                                                        13. \u7530\u4e2d\u82f1\u53f8\u3001\u68ee\u91ce\u8c4a\u4e4b\u3001\u4e38\u5c71\u535a\u6587\u3001\u5ddd\u4e0a\u79c0\u53f2\uff1a\u907a\u4f1d\u6027\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c716\u578b(SCA16)\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff0c\u7b2c48\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u540d\u53e4\u5c4b\uff0c2007<\/li>\n\n\n\n
                                                        14. \u938c\u7530\u4e03\u7537\u3001\u5ddd\u4e0a\u79c0\u53f2\uff1a0.5Sv\u4ee5\u4e0a\u306e\u6b8b\u7559\u653e\u5c04\u7dda\u306b\u88ab\u66dd\u3057\u305f\u3068\u63a8\u5b9a\u3055\u308c\u308b\u4e8b\u4f8b\u30fc\u767d\u8840\u7403\u6570\u3068\u67d3\u8272\u4f53\u7570\u5e38\u7387\u304b\u3089\u306e\u691c\u8a3c\u30fc\uff0e\u7b2c48\u56de\u539f\u5b50\u7206\u5f3e\u5f8c\u969c\u5bb3\u7814\u7a76\u4f1a\u3001\u5e83\u5cf6\u30012007<\/li>\n\n\n\n
                                                        15. \u68ee\u91ce\u8c4a\u4e4b\u3001\u4e38\u5c71\u535a\u6587\u3001\u548c\u6cc9\u552f\u4fe1*1\u3001\u7e54\u7530\u96c5\u4e5f*2\u3001\u5bfa\u6fa4\u82f1\u592b*3\u3001\u7530\u8def\u6d69\u6b63*3\u3001\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\u3001*2\u4f4f\u53cb\u75c5\u9662\u3001*3\u4e2d\u56fd\u52b4\u707d\u75c5\u9662\uff09\uff1a\u7b2c16\u756a\u67d3\u8272\u4f53\u9577\u8155\u9023\u9396\u578b\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u6027\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7(16q-ADCA)\u306e\u5730\u57df\u5225\u983b\u5ea6\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u691c\u8a0e\uff0c\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u7b2c52\u56de\u5927\u4f1a\u3001\u6771\u4eac\uff0c2007<\/li>\n\n\n\n
                                                        16. \u68ee\u91ce\u8c4a\u4e4b\u3001\u4e38\u5c71\u535a\u6587\u3001\u548c\u6cc9\u552f\u4fe1*1\u3001\u7e54\u7530\u96c5\u4e5f*2\u3001\u5bfa\u6fa4\u82f1\u592b*3\u3001\u7530\u8def\u6d69\u6b63*3\u3001\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\u3001*2\u4f4f\u53cb\u75c5\u9662\u3001*3\u4e2d\u56fd\u52b4\u707d\u75c5\u9662\uff09\uff1a\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c71836\u4f8b\u306e\u75c5\u578b\u5206\u985e\u3068\u5730\u57df\u5225\u75c5\u578b\u983b\u5ea6\u306e\u691c\u8a0e\uff0e\u7b2c17\u56de\u65e5\u672c\u75ab\u5b66\u4f1a\u5b66\u8853\u7dcf\u4f1a\u3001\u5e83\u5cf6\u30012007<\/li>\n\n\n\n
                                                        17. H Tamura, Y Izumi*1, K Sasaki*2, H Maruyama, H Morino, M Matsumoto*3, H Mishima*4, H Kawakami. (*1 Vihara Hananosato Hospital, *2 Kinoko Espoir Hospital, *3 Department of Clinical Neuroscience and Therapeutics, *4 Department of Ophthalmology and Visual Science) : High frequency of open-angle glaucoma in Alzheimer disease patients. The 6th Annual Meeting of International College of Geriatric Psychoneuropharmacology. Hiroshima, 2006.<\/li>\n\n\n\n
                                                        18. H Morino, H Maruyama, Y Izumi*1, H Terasawa*2, M Oda*2, H Toji*2, H Kawakami. (*1 Department of Clinical Neuroscience, Institute of Health Biosciences, University of Tokushima Graduate School, *2 Department of Clinical Neuroscience and Therapeutics) : Subtype proportion to spinocerebellar ataxia in Japan. 10th International Congress of Parkinson Disease and Movement Disorders. Kyoto, 2006.<\/li>\n\n\n\n
                                                        19. \u548c\u6cc9\u552f\u4fe1*1\u3001\u68b6\u9f8d\u5152*1\u3001\u4e38\u5c71\u535a\u6587\u3001\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff09\uff1a\u30b8\u30b9\u30c8\u30cb\u30a2\u60a3\u8005\u306b\u304a\u3051\u308bSCA6\u907a\u4f1d\u5b50\u306e\u691c\u8a0e\uff0c\u7b2c47\u56de\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u6771\u4eac\uff0c2006<\/li>\n\n\n\n
                                                        20. \u5ddd\u4e0a\u79c0\u53f2\uff1aCharcot-Marie-Tooth X\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u7570\u5e38\u3068\u75c5\u614b\uff0e\u7b2c17\u56de\u65e5\u672c\u672b\u68a2\u795e\u7d4c\u5b66\u4f1a\u5b66\u8853\u7dcf\u4f1a\uff0c\u5e83\u5cf6\uff0c2006<\/li>\n\n\n\n
                                                        21. \u938c\u7530\u4e03\u7537\u3001\u5927\u5317\u5a01\u3001\u8535\u672c\u6df3\u3001\u5ddd\u4e0a\u79c0\u53f2\u3001\u5cf6\u672c\u6b66\u55e3*1\u3001\u51a8\u7530\u54f2\u6cbb*1\u3001\u5927\u7027\u6148*1\uff08*1\u8a08\u91cf\u751f\u7269\uff09\uff1a\uff18\u6708\uff16\u65e5\u5165\u5e02\u88ab\u7206\u8005\u767d\u8840\u75c5\u306e\u767a\u751f\u5897\u52a0\u306b\u3064\u3044\u3066\uff0e\u7b2c47\u56de\u539f\u5b50\u7206\u5f3e\u5f8c\u969c\u5bb3\u7814\u7a76\u4f1a\u3001\u9577\u5d0e\u30012006\uff08\u9577\u5d0e\u533b\u5b66\u4f1a\u96d1\u8a8c\u8b1b\u6f14\u96c6p245-249, 2006\uff09<\/li>\n<\/ol>\n\n\n\n

                                                          \uff23\uff0e\u305d\u306e\u4ed6<\/h4>\n\n\n\n
                                                            \n
                                                          1. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u3068\u907a\u4f1d\u5b50\uff0e\u5bb6\u65cf\u3060\u3088\u308a\u3000\u8a8d\u77e5\u75c7\u306e\u4eba\u3068\u5bb6\u65cf\u306e\u4f1a\u5e83\u5cf6\u770c\u652f\u90e8\u7248 p2<\/li>\n\n\n\n
                                                          2. \u4e38\u5c71\u535a\u6587\uff1a\u533b\u5e2b\u3092\u56f2\u3093\u3067\u8a8d\u77e5\u75c7\u3092\u8a9e\u308d\u3046\uff0e\u30b7\u30eb\u30d0\u30fc\u308f\u304f\u308f\u304f\u7dcf\u5408\u30d5\u30a7\u30a2\uff0c\u5e83\u5cf6\uff0c2009\/5\/31<\/li>\n\n\n\n
                                                          3. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff0c\u4e38\u5c71\u535a\u6587\uff1a\u9ad8\u5bc6\u5ea6SNPchip\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u7570\u5e38\u306e\u691c\u51fa\uff0e\u7b2c\uff15\u56de\u5e83\u5cf6\u5927\u5b66\u30fb\u9577\u5d0e\u5927\u5b66\u9023\u643a\u7814\u7a76\u4e8b\u696d\u30ab\u30f3\u30d5\u30a1\u30e9\u30f3\u30b9\uff08\u5831\u544a\u66f8p75-77\uff09\uff0e\u5e83\u5cf6, 2009\/6\/6\uff0e<\/li>\n\n\n\n
                                                          4. \u4f50\u85e4\u88d5\u54c9\uff0c\u661f\u6b63\u6cbb\uff0c\u5927\u7027\u6148\uff0c\u4e38\u5c71\u535a\u6587\uff0cHM Cullings*1\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff08*1\u653e\u5f71\u7814\uff09\uff1a\u5730\u7406\u60c5\u5831\u30b7\u30b9\u30c6\u30e0\u3092\u7528\u3044\u305f\u88ab\u7206\u8005\u4f4d\u7f6e\u60c5\u5831\u306e\u9ad8\u7cbe\u5ea6\u5316\u306e\u8a66\u307f\uff0e\u7b2c50\u56de\u539f\u5b50\u7206\u5f3e\u5f8c\u969c\u5bb3\u7814\u7a76\u4f1a\uff0e\u5e83\u5cf6\uff0c2009\/6\/7<\/li>\n\n\n\n
                                                          5. \u938c\u7530\u4e03\u7537\uff0c\u7530\u4ee3\u8061\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u795e\u8c37\u7814\u4e8c\uff1a\u300c\u5f53\u6642\u306e\u30ab\u30eb\u30c6\u300d\u3092\u7528\u3044\u305f\u300cAFIP\u8fd4\u9084\u88ab\u7206\u8cc7\u6599\u300d\u306e\u691c\u8a3c\uff0e\u7b2c50\u56de\u539f\u5b50\u7206\u5f3e\u5f8c\u969c\u5bb3\u7814\u7a76\u4f1a\uff0e\u5e83\u5cf6\uff0c2009\/6\/7<\/li>\n\n\n\n
                                                          6. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u7530\u4e2d\u82f1\u53f8\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff1a\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306b\u5bfe\u3059\u308b\u55ab\u7159\u306e\u5f71\u97ff\u2014\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306b\u304a\u3051\u308b\u30cb\u30b3\u30c1\u30f3\u53d7\u5bb9\u4f53\u591a\u578b\uff0e\u7b2c24\u56de\u5e73\u621020\u5e74\u5ea6\u52a9\u6210\u7814\u7a76\u767a\u8868\u4f1a\uff08\u5e73\u6210\u5e74\u5ea6\u55ab\u7159\u79d1\u5b66\u7814\u7a76\u8ca1\u56e3\u7814\u7a76\u5e74\u5831p-\uff09\uff0e\u6771\u4eac\uff0c2009\/7\/9<\/li>\n\n\n\n
                                                          7. \u4e38\u5c71\u535a\u6587\uff1a\u8133\u795e\u7d4c\u5185\u79d1\u533b\u306e\u7acb\u5834\u304b\u3089\u306e\u8a3a\u65ad\u30fb\u6cbb\u7642\uff08\u30a2\u30ea\u30bb\u30d7\u30c810mg\u306e\u9069\u5fdc\uff09\uff0e\u5e83\u5cf6\u5e02\u6771\u533a\u7b2c\uff13\u652f\u90e8\u8a8d\u77e5\u75c7\u30af\u30ea\u30cb\u30ab\u30eb\u30ab\u30f3\u30d5\u30a1\u30ec\u30f3\u30b9\u30bb\u30df\u30ca\u30fc\uff0e\u5e83\u5cf6\uff0c2009\/7\/29<\/li>\n\n\n\n
                                                          8. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u306e\u6b63\u3057\u3044\u7406\u89e3\u3068\u4e88\u9632\u6cd5\uff0e\u304d\u3066\u307f\u3066\u306a\u3063\u3068\u304f\u8001\u5f8c\u306e\u5927\u4e8b\u306a\u3042\u308c\u3084\u3053\u308c\uff0e\u5e83\u5cf6\uff0c2009\/8\/29<\/li>\n\n\n\n
                                                          9. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff1a\u539f\u7206\u88ab\u7206\u8005\u306e\u514d\u75ab\u6a5f\u80fd\u306b\u95a2\u3059\u308b\u7814\u7a76\uff0e\u5e73\u621020\u5e74\u5ea6\u539a\u751f\u52b4\u50cd\u7701\u59d4\u8a17\u4e8b\u696d\u3000\u539f\u7206\u75c7\u8abf\u67fb\u7814\u7a76\u4e8b\u696d\u5831\u544a\u66f8\uff0eP30-31 2009<\/li>\n\n\n\n
                                                          10. \u4e38\u5c71\u535a\u6587\uff1a\u8133\u795e\u7d4c\u5185\u79d1\u533b\u306e\u7acb\u5834\u304b\u3089\u306e\u8a3a\u65ad\u30fb\u6cbb\u7642\uff08\u30a2\u30ea\u30bb\u30d7\u30c810mg\u3078\u306e\u5897\u91cf\u306e\u30bf\u30a4\u30df\u30f3\u30b0\uff09\uff0e\u8a8d\u77e5\u75c7\u30af\u30ea\u30cb\u30ab\u30eb\u30ab\u30f3\u30d5\u30a1\u30ec\u30f3\u30b9\u30bb\u30df\u30ca\u30fc\uff0e\u5e83\u5cf6\uff0c2009\/10\/21<\/li>\n\n\n\n
                                                          11. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u9ad8\u9f62\u8005\u306e\u57fa\u672c\u7684\u7406\u89e3\uff0e\u5e73\u621021\u5e74\u5ea6\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u578b\u30b5\u30fc\u30d3\u30b9\u4e8b\u696d\u958b\u8a2d\u8005\u7814\u4fee\uff0e\u5e83\u5cf6\uff0c2009\/11\/11<\/li>\n\n\n\n
                                                          12. \u4e38\u5c71\u535a\u6587\uff1a\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7\u306e\u75c5\u6c17\u3068\u6cbb\u7642\u306b\u3064\u3044\u3066\uff0e\u5e73\u621021\u5e74\u5ea6\u795e\u7d4c\u7cfb\u96e3\u75c5\u8b1b\u6f14\u4f1a\u30fb\u76f8\u8ac7\u4f1a\uff0e\u6771\u5e83\u5cf6\uff0c2010\/2\/26<\/li>\n\n\n\n
                                                          13. \u4e38\u5c71\u535a\u6587\uff1a\u304b\u304b\u308a\u3064\u3051\u533b\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u529b\u5411\u4e0a\u7814\u4fee\u4f1a\uff0e\u798f\u5c71\uff0c2010\/2\/28<\/li>\n\n\n\n
                                                          14. \u4e38\u5c71\u535a\u6587\uff1a\u30b7\u30f3\u30dd\u30b8\u30a6\u30e0\u300c\u8a8d\u77e5\u75c7\u306e\u4eba\u3068\u5bb6\u65cf\u3092\u5730\u57df\u306e\u529b\u3067\u652f\u3048\u3088\u3046\u300d\u3001\u8a8d\u77e5\u75c7\u306b\u3084\u3055\u3057\u3044\u5730\u57df\u3092\u3081\u3056\u3057\u3066\u3001\u5e83\u5cf6\u30012009\/2\/22<\/li>\n\n\n\n
                                                          15. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff1a\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306e\u907a\u4f1d\u5b50\u89e3\u6790\uff0e\u7b2c\uff14\u56de\u5e83\u5cf6\u5927\u5b66\u30fb\u9577\u5d0e\u5927\u5b66\u9023\u643a\u7814\u7a76\u4e8b\u696d\u30ab\u30f3\u30d5\u30a1\u30e9\u30f3\u30b9\uff0e\u9577\u5d0e, 2008\uff0e<\/li>\n\n\n\n
                                                          16. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff1a\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306b\u5bfe\u3059\u308b\u55ab\u7159\u306e\u5f71\u97ff\uff0e\u7b2c23\u56de\u5e73\u621019\u5e74\u5ea6\u52a9\u6210\u7814\u7a76\u767a\u8868\u4f1a\uff08\u5e73\u621019\u5e74\u5ea6\u55ab\u7159\u79d1\u5b66\u7814\u7a76\u8ca1\u56e3\u7814\u7a76\u5e74\u5831p435-438\uff09\uff0e\u6771\u4eac\uff0c2008<\/li>\n\n\n\n
                                                          17. \u4e38\u5c71\u535a\u6587\uff1a\u304b\u304b\u308a\u3064\u3051\u533b\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u529b\u5411\u4e0a\u7814\u4fee\u4f1a\uff0c\u5e83\u5cf6\uff0c2008\/8\/24<\/li>\n\n\n\n
                                                          18. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u306e\u57fa\u790e\u77e5\u8b58\u3001\u5b89\u82b8\u5b66\u8853\u8b1b\u6f14\u4f1a\uff08\u5b89\u82b8\u5730\u533a\u533b\u5e2b\u4f1a\u6708\u5831Vol.418, p5-8\uff09\uff0c\u5e83\u5cf6\uff0c2008\/8\/28<\/li>\n\n\n\n
                                                          19. \u4e38\u5c71\u535a\u6587\uff1a\u304b\u304b\u308a\u3064\u3051\u533b\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u529b\u5411\u4e0a\u7814\u4fee\u4f1a\uff0c\u5449\uff0c2008\/10\/4<\/li>\n\n\n\n
                                                          20. \u68b6\u9f8d\u5152*1\uff0c\u938c\u7530\u6b63\u7d00\uff0c\u548c\u6cc9\u552f\u4fe1*1\uff0c\u91ce\u5bfa\u88d5\u4e4b*1\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5ddd\u4e0a\u79c0\u53f2\uff0c\u4f0a\u6771\u79c0\u6587*2\uff0c\u65e5\u4e0b\u535a\u6587*2\uff08*1\u5fb3\u5cf6\u5927\u5b66\uff0c*2\u95a2\u897f\u533b\u79d1\u5927\u5b66\uff09\uff1a\u5bb6\u65cf\u6027ALS\u304a\u3088\u3073\u5f27\u767a\u6027ALS\u306b\u304a\u3051\u308bTARDBP\u907a\u4f1d\u5b50\u5909\u7570\u306e\u983b\u5ea6\u691c\u7d22\uff0c\u5e73\u621020\u5e74\u5ea6\u795e\u7d4c\u5909\u6027\u75be\u60a3\u306b\u95a2\u3059\u308b\u8abf\u67fb\u7814\u7a76\u73ed\u3000\u73ed\u4f1a\u8b70\uff0c\u6771\u4eac\uff0c2008\/12\/19<\/li>\n\n\n\n
                                                          21. \u5175\u982d\u9ebb\u5e0c*1\uff0c\u96e3\u6ce2\u6804\u4e8c*2\uff0c\u4e2d\u8fbc\u3055\u3068\u5b50*1\uff0c\u4e2d\u6751\u548c\u6d0b*1\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u5c0f\u6797\u6b63\u592b*1\uff08*1\u907a\u4f1d\u5b50\u8a3a\u7642\u90e8\u3001*2\u9ce5\u53d6\u5927\u5b66\uff09\uff1a\u7b4b\u5f37\u76f4\u6027\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fcmyotonic dystrophy (DM)\u306e\u51fa\u751f\u524d\u8a3a\u65ad\u306e\uff11\u4f8b\u3001\u7b2c11\u56de\u80ce\u5150\u907a\u4f1d\u5b50\u8a3a\u65ad\u7814\u7a76\u4f1a\uff0c\u9577\u5d0e\uff0c2008\/2\/16<\/li>\n\n\n\n
                                                          22. \u4e38\u5c71\u535a\u6587\uff1a\u8a8d\u77e5\u75c7\u306e\u75c5\u614b\u3068\u907a\u4f1d\u5b50\u306e\u95a2\u4fc2\uff0e\u7b2c\uff15\u56de\u8133\u3092\u77e5\u308b\u30b7\u30f3\u30dd\u30b8\u30a6\u30e0in\u4e09\u539f\uff0c2008\/3\/1<\/li>\n\n\n\n
                                                          23. \u5ddd\u4e0a\u79c0\u53f2\uff0c\u4e38\u5c71\u535a\u6587\uff0c\u68ee\u91ce\u8c4a\u4e4b\uff1a\u52a3\u6027\u907a\u4f1d\u6027\u7b4b\u840e\u7e2e\u6027\u5074\u7d22\u786c\u5316\u75c7\u306e\u907a\u4f1d\u5b50\u63a2\u7d22\uff0e\u7b2c\uff13\u56de\u5e83\u5cf6\u5927\u5b66\u30fb\u9577\u5d0e\u5927\u5b66\u9023\u643a\u7814\u7a76\u4e8b\u696d\u30ab\u30f3\u30d5\u30a1\u30e9\u30f3\u30b9\uff08\u5831\u544a\u66f8p53-55\uff09\uff0e\u5e83\u5cf6, 2007\uff0e<\/li>\n\n\n\n
                                                          24. \u4e38\u5c71\u535a\u6587\uff1a\u304b\u304b\u308a\u3064\u3051\u533b\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u529b\u5411\u4e0a\u7814\u4fee\u4f1a\uff0c\u798f\u5c71\uff0c2007\/8\/26<\/li>\n\n\n\n
                                                          25. \u4e38\u5c71\u535a\u6587\uff1a\u304b\u304b\u308a\u3064\u3051\u533b\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u529b\u5411\u4e0a\u7814\u4fee\u4f1a\uff0c\u4e09\u539f\uff0c2007\/9\/30<\/li>\n\n\n\n
                                                          26. \u4e38\u5c71\u535a\u6587\uff1a\u304b\u304b\u308a\u3064\u3051\u533b\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u529b\u5411\u4e0a\u7814\u4fee\u4f1a\uff0c\u5e83\u5cf6\uff0c2007\/11\/25<\/li>\n\n\n\n
                                                          27. \u4e38\u5c71\u535a\u6587\uff1a\u304b\u304b\u308a\u3064\u3051\u533b\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u529b\u5411\u4e0a\u7814\u4fee\u4f1a\uff0c\u6771\u5e83\u5cf6\uff0c2007\/3\/4<\/li>\n\n\n\n
                                                          28. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u653e\u5c04\u7dda\u3068\u795e\u7d4c\u75be\u60a3\u3001\u5e73\u621018\u5e74\u5ea6\u5e83\u5cf6\u5927\u5b66\u516c\u958b\u8b1b\u5ea7\u3001\u5e83\u5cf6\u30012006\/6\/22<\/li>\n\n\n\n
                                                          29. \u4e38\u5c71\u535a\u6587\uff1a\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u6cbb\u7642\u306b\u95a2\u3059\u308b\u6700\u65b0\u306e\u8a71\u984c\uff0c\u30ad\u30c3\u30bb\u30a4\u30fb\u30d5\u30a1\u30a4\u30b6\u30fc\u793e\u5185\u52c9\u5f37\u4f1a\uff0c\u5e83\u5cf6\uff0c2006\/9\/6<\/li>\n\n\n\n
                                                          30. \u4e38\u5c71\u535a\u6587\uff1aALS\u306e\u75c5\u614b\u751f\u7406\uff0c\u5e73\u621018\u5e74\u5ea6\u8a2a\u554f\u770b\u8b77\u6280\u8853\u5411\u4e0a\u7814\u4fee\u4f1a\u300cALS\u60a3\u8005\u306e\u5728\u5b85\u7642\u990a\u652f\u63f4\u306e\u305f\u3081\u306e\u7814\u4fee\u30fb\u4ea4\u6d41\u4f1a\u300d\uff0c\u5e83\u5cf6\uff0c2006\/10\/14<\/li>\n\n\n\n
                                                          31. \u4e38\u5c71\u535a\u6587\uff1a\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u578b\u8a8d\u77e5\u75c7\u306e\u65e9\u671f\u8a3a\u65ad\u3068\u6cbb\u7642\uff0c\u30e9\u30a6\u30f3\u30c9\u30c6\u30fc\u30d6\u30eb\u30c7\u30a3\u30b9\u30ab\u30c3\u30b7\u30e7\u30f3\u300c\u8a8d\u77e5\u75c7\u306e\u65e9\u671f\u767a\u898b\u3068\u6cbb\u7642\u53ef\u80fd\u306a\u8a8d\u77e5\u75c7\u300d\uff0e\u7b2c59\u56de\u5e83\u5cf6\u533b\u5b66\u4f1a\u7dcf\u4f1a\uff0c\u5e83\u5cf6\uff0c2006\/11\/11<\/li>\n\n\n\n
                                                          32. \u5ddd\u4e0a\u79c0\u53f2\uff1a\u795e\u7d4c\u75be\u60a3\u306e\u65b0\u3057\u3044\u8a3a\u65ad\u6cd5\u3092\u3081\u3056\u3057\u3066\u30fc\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u75c5\u3092\u4e2d\u5fc3\u306b\u30fc\u3001\u5e73\u621018\u5e74\u5ea6\u7b2c\uff11\u56de\u533b\u7642\u30fb\u8a3a\u65ad\u6a5f\u5668\u958b\u767a\u7814\u7a76\u4ea4\u6d41\u4f1a\u3001\u5e83\u5cf6\u30012006.11.20<\/li>\n\n\n\n
                                                          33. \u4e38\u5c71\u535a\u6587\uff1a\u304b\u304b\u308a\u3064\u3051\u533b\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u529b\u5411\u4e0a\u7814\u4fee\u4f1a\uff0c\u5449\uff0c2006\/12\/3<\/li>\n\n\n\n
                                                          34. \u4e38\u5c71\u535a\u6587\uff1a\u304b\u304b\u308a\u3064\u3051\u533b\u8a8d\u77e5\u75c7\u5bfe\u5fdc\u529b\u5411\u4e0a\u7814\u4fee\u4f1a\uff0c\u5eff\u65e5\u5e02\uff0c2006\/12\/17<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"

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