後藤 順 ごとう じゅん 先生

来歴等

略歴

1976年　　　東京大学教養学部　理科2類　卒業
1980年　　　東京大学医学部医学科　卒業
1980年　　　東京大学医学部附属病院内科研修医
1982年　　　東京大学医学部附属病院神経内科医員
1982年　　　国立療養所東京病院神経内科医員（厚生技官）
1983年　　　東京大学医学部附属病院神経内科医員
1984年　　　国立療養所下志津病院神経内科医員（厚生技官）
1985年　　　東京大学医学部附属病院神経内科医員
1986年　　　東京大学医学部附属病院神経内科研究生
1986年　　　東京大学医学部附属病院神経内科医員
1987年　　　国家公務員共済組合連合会虎の門病院神経内科医員
1988年　　　東京大学医学部附属病院神経内科医員
1988年　　　東京大学医学部附属病院神経内科文部技官（教務職員）
1990年　　　マッギール大学留学（Human Frontier Science Postdoctoral Fellowship）のため、一年間休職
1994年　　　東京大学医学部附属病院神経内科助手
1994年　　　東京大学医学部附属病院神経内科医局長
2003年　　　東京大学医学部講師
2012年　　　東京大学大学院医学系研究科脳神経医学専攻准教授
2015年　　　国際医療福祉大学三田病院神経内科教授・部長
2017年　　　国際医療福祉大学医学部教授・国際医療福祉大学三田病院神経内科部長
2021年　　　国際医療福祉大学市川病院脳神経内科

論文

1. Saito F, Goto J, Kakinuma H, Nakamura F, Murayama S, Nakano I, Tonomura A. Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome. Clin Genet. 29(1):92-3,1986. PMID: 3004790

2. Francke U, Harper JF, Darras BT, Cowan JM, McCabe ER, Kohlschutter A, Seltzer WK, Saito F, Goto J, Harpey JP, Weis JE. Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet. 40(3): 212-27,1987. PMID: 2883886]

3. Kakinuma H, Nakamura F, Murayama S, Goto J, Nakano I, Saito F, Ohtake A, Takayanagi M, Nakajima H. A case with the infantile type of glycerol kinase deficiency. Acta Paediatr Jpn. 29(3):465-8,1987. PMID: 2849856

4. Akita Y, Ohno S, Goto J, Nakano I, Takatsu M, Sugita H, Suzuki K. Diagnosis of Duchenne and Becker muscular dystrophies by DNA polymorphism. Jinrui Idengaku Zasshi. 32(2): 71-82,1987. PMID: 2893850

5. Aizawa H, Kwak S, Shimizu T, Goto J, Nakano I, Mannen T, Shibasaki H. A case of adult onset pure pallidal degeneration. I. Clinical manifestations and neuropathological observations. J Neurol Sci. 102(1):76-82,1991. PMID: 1856734

6. Goto J, Figlewicz DA, Lutchman M, Ruddle F, Rouleau GA. A PvuII RFLP at the HOX 1.4 homeobox locus (HOX1D). Nucleic Acids Res. 19(13):3755,1991. PMID: 1677186

7. Goto J, Figlewicz DA, Marineau C, Khodr N, Rouleau GA. Dinucleotide repeat polymorphism at the IGF2R locus. Nucleic Acids Res. 20(4):923,1992. PMID: 1311836

8. Goto J, Tassone F, Demczuk S, Gardiner K, Figlewicz DA, Khodr N, Rouleau GA. Dinucleotide repeat polymorphism at the D21S65 locus. Hum Mol Genet. 1(5):350,1992. PMID: 1303216

9. Goto J, Figlewicz DA, Gnirke A, Khodr N, Krizus A, Rouleau GA. Dinucleotide repeat polymorphism at the D21S219 locus which flanks the GARS-AIRS-GART gene. Hum Mol Genet. 1(9):782,1992. PMID: 1339477

10. Goto J, Figlewicz DA, Haines JL, Brown RH Jr, Khodr N, Rouleau GA. The glycinamide ribonucleotide transformylase (GART) gene is not responsible for familial amyotrophic lateral sclerosis. Neuromuscul Disord. 3(2):157-60,1993. PMID: 8358240

11. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, Rahmani Z, Krizus A, McMenna-Yasek D, Cayabyab A, Gaston SMn Berger R, Tanzi R, Halperin JJ, Herzfeldt B, van den Bergh R, Hung W-Y, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance MA, Haines J, Rouleau GA, Gusella JS, Horvitz R, Brown RH Jr. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 362(6415):59-62,1993. Erratum in: Nature. 364(6435):362,1993. PMID: 8446170

12. Goto J, Miyabayashi T, Wakamatsu Y, Takahashi N, Muramatsu M. Organization and expression of mouse Hox3 cluster genes. Mol Gen Genet. 239(1-2):41-8,1993.PMID: 8099712

13. Goto J, Gnirke A, Khodr N, Kaufer E, Krizus A, Figlewicz DA, Rouleau GA. Dinucleotide repeat polymorphism at the D21S370 locus which flanks the PRGS(GARS)-PAIS (AIRS)-PGFT (GART) gene. Hum Mol Genet. 2(5):616,1993. PMID: 8518815

14. Figlewicz DA, McInnis MG, Goto J, Haines JL, Warren AC, Krizus A, Khodr N, Brown RH Jr, McKenna-Yasek D, Antonarakis SE, Rouleau GA. Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21. J Neurol Sci. 124(Suppl):90-5,1994. PMID: 7807155

15. Pramatarova A, Goto J, Nanba E, Nakashima K, Takahashi K, Takagi A, Kanazawa I, Figlewicz DA, Rouleau GA. A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet. 3(11):2061-2,1994. PMID: 7874127

16. Squitieri F, Andrew SE, Goldberg YP, Kremer B, Spence N, Zeisler J, Nichol K, Theilmann J, Greenberg J, Goto J, Kanazawa I, Vesa J, Peltonen L, Almqvist E, Anvret M, Telenius H, Lin B, Napolitano G, Morgan K, Hayden MR. DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum Mol Genet. 3(12):2103-14,1994. PMID: 7881406

17. Almqvist E, Spence N, Nichol K, Andrew SE, Vesa J, Peltonen L, Anvret M, Goto J, Kanazawa I, Goldberg YP, Hayden MR. Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease. Hum Mol Genet. 4(2):207-14,1995. PMID: 7757069

18. Ide K, Nukina N, Masuda N, Goto J, Kanazawa I. Abnormal gene product identified in Huntington's disease lymphocytes and brain. Biochem Biophys Res Commun. 209(3):1119-25,1995. PMID: 7733967

19. Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nat Genet. 10(1):99-103,1995. PMID: 7647802

20. Nishiyama K, Kwak S, Murayama S, Watanabe M, Goto J, Asayama K, Kanazawa I. Increased Cu/Zn superoxide dismutase-like immunoreactivity in the swollen axons of rats intoxicated chronically with beta,beta'-iminodipropionitrile. Neurosci Lett. 194(3):205-8,1995. PMID: 7478239

21. Masuda N, Goto J, Murayama N, Watanabe M, Kondo I, Kanazawa I. Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease. J Med Genet. 32(9):701-5,1995. PMID: 8544189

22. Nakashima K, Watanabe Y, Kusumi M, Nanba E, Maeoka Y, Nakagawa M, Igo M, Irie H, Ishino H, Fujimoto A, Goto J, Takahashi K. Epidemiological and genetic studies of Huntington's disease in the San-in area of Japan. Neuroepidemiology. 15(3):126-31,1996. PMID: 8700304

23. Nishiyama K, Murayama S, Goto J, Watanabe M, Hashida H, Katayama S, Nomura Y, Nakamura S, Kanazawa I. Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals. Ann Neurol. 40(5):776-81,1996. PMID: 8957019

24. Ichikawa Y, Watanabe M, Kowa H, Murayama S, Mizuno T, Komuro I, Ishiki R, Goto J, Kanazawa I. A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene. Ann Neurol. 41(3):399-402,1997. PMID: 9066362

25. Yazawa I, Nukina N, Goto J, Kurisaki H, Hebisawa A, Kanazawa I. Expression of dentatorubral-pallidoluysian atrophy (DRPLA) proteins in patients. Neurosci Lett. 225(1):53-6,1997. PMID: 9143016

26. Hashida H, Goto J, Kurisaki H, Mizusawa H, Kanazawa I. Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1. Ann Neurol. 41(4):505- 11,1997. PMID: 9124808

27. Wang G, Ide K, Nukina N, Goto J, Ichikawa Y, Uchida K, Sakamoto T, Kanazawa I. Machado- Joseph disease gene product identified in lymphocytes and brain. Biochem Biophys Res Commun. 233(2):476-9,1997. PMID: 9144561

28. Goto J, Watanabe M, Ichikawa Y, Yee SB, Ihara N, Endo K, Igarashi S, Takiyama Y, Gaspar C, Maciel P, Tsuji S, Rouleau GA, Kanazawa I. Machado-Joseph disease gene products carrying different carboxyl termini. Neurosci Res. 28(4):373-7,1997. PMID: 9274833

29. Ito W, Goto J, Kanazawa I, Kurosawa Y. Instability of regions containing expanded CAG repeats during replication in Escherichia coli probed by labeled oligonucleotides. Biochem Biophys Res Commun. 240(2):471-7,1997. PMID: 9388503

30. Hashida H, Goto J, Zhao N, Takahashi N, Hirai M, Kanazawa I, Sakaki Y. Cloning and mapping of ZNF231, a novel brain-specific gene encoding neuronal double zinc finger protein whose expression is enhanced in a neurodegenerative disorder, multiple system atrophy (MSA). Genomics. 54(1):50-8,1998. PMID: 9806829

31. Sato T, Oyake M, Nakamura K, Nakao K, Fukusima Y, Onodera O, Igarashi S, Takano H, Kikugawa K, Ishida Y, Shimohata T, Koide R, Ikeuchi T, Tanaka H, Futamura N, Matsumura R, Takayanagi T, Tanaka F, Sobue G, Komure O, Takahashi M, Sano A, Ichikawa Y, Goto J, Kanazawa I, Ktsuki M, Tsuji S. Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients. Hum Mol Genet. 8(1):99-106,1999. PMID: 9887337

32. Mochizuki H, Kamakura K, Kumada M, Goto J, Kanazawa I, Motoyoshi K. A patient with Huntington's disease presenting with laryngeal chorea. Eur Neurol. 41(2):119-20,1999. PMID: 10023121

33. Hazeki N, Nakamura K, Goto J, Kanazawa I. Rapid aggregate formation of the huntingtin N-terminal fragment carrying an expanded polyglutamine tract. Biochem Biophys Res Commun. 256(2):361-6,1999. PMID: 10079189

34. Maciel P, Gaspar C, Guimaraes L, Goto J, Lopes-Cendes I, Hayes S, Arvidsson K, Dias A, Sequeiros J, Sousa A, Rouleau GA. Study of three intragenic polymorphisms in the Machado- Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract. Eur J Hum Genet. 7(2):147-56,1999. PMID: 10196697

35. Kotliarova SE, Toda T, Takenaka O, Matsushita I, Hida A, Shinka T, Goto J, Tokunaga K, Nakagome Y, Nakahori Y. Novel (CA)n marker DXYS241 on the nonrecombinant part of the human Y chromosome. Hum Biol. 71(2):261-75,1999. PMID: 10222647

36. Hoshino M, Masuda N, Ito Y, Murata M, Goto J, Sakurai M, Kanazawa I. Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene. Ann Neurol. 45(6):809-12,1999. PMID: 10360777

37. Yoshizawa T, Yamagishi Y, Koseki N, Goto J, Yoshida H, Shibasaki F, Shoji S, Kanazawa I. Cell cycle arrest enhances the in vitro cellular toxicity of the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch. Hum Mol Genet. 9(1):69-78,2000. PMID: 10587580

38. Jeong SY, Goto J, Hashida H, Suzuki T, Ogata K, Masuda N, Hirai M, Isahara K, Uchiyama Y, Kanazawa I. Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A. Biochem Biophys Res Commun. 267(1):262-70,2000. PMID: 10623608

39. Ogata K, Jeong SY, Murakami H, Hashida H, Suzuki T, Masuda N, Hirai M, Isahara K, Uchiyama Y, Goto J, Kanazawa I. Cloning and expression study of the mouse tetrodotoxin- resistant voltage-gated sodium channel alpha subunit NaT/Scn11a. Biochem Biophys Res Commun. 267(1):271-7,2000. PMID: 10623609

40. Shimohata T, Nakajima T, Yamada M, Uchida C, Onodera O, Naruse S, Kimura T, Koide R, Nozaki K, Sano Y, Ishiguro H, Sakoe K, Ooshima T, Sato A, Ikeuchi T, Oyake M, Sato T, Aoyagi Y, Hozumi I, Nagatsu T, Takiyama Y, Nishizawa M, Goto J, Kanazawa I, Davidson I, Tanese N, Takahashi H, Tsuji S. Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription. Nat Genet. 26(1):29-36,2000. PMID: 10973244

41. Hazeki N, Tukamoto T, Goto J, Kanazawa I. Formic acid dissolves aggregates of an N-terminal huntingtin fragment containing an expanded polyglutamine tract: applying to quantification of protein components of the aggregates. Biochem Biophys Res Commun. 277(2): 386-93,2000. PMID: 11032734

42. Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, Riess O, Sasaki H, Hsieh M, Nicholson GA, Brunt E, Higgins JJ, Lauritzen M, Tranebjaerg L, Volpini V, Wood N, Ranum L, Tsuji S, Brice A, Sequeiros J, Rouleau GA. Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. Am J Hum Genet. 68(2): 523-8,2001. Epub 2000 Dec 20. PMID: 11133357

43. Ichikawa Y, Goto J, Hattori M, Toyoda A, Ishii K, Jeong SY, Hashida H, Masuda N, Ogata K, Kasai F, Hirai M, Maciel P, Rouleau GA, Sakaki Y, Kanazawa I. The genomic structure and expression of MJD, the Machado-Joseph disease gene. J Hum Genet. 46(7):413-22,2001. PMID: 11450850

44. Ishiguro H, Yamada K, Sawada H, Nishii K, Ichino N, Sawada M, Kurosawa Y, Matsushita N, Kobayashi K, Goto J, Hashida H, Masuda N, Kanazawa I, Nagatsu T. Age-dependent and tissue-specific CAG repeat instability occurs in mouse knock-in for a mutant Huntington's disease gene. J Neurosci Res. 65(4):289-97,2001. PMID: 11494364

45. Okamoto T, Jeong SY, Takahashi Y, Baughman KW, Ogata K, Goto J, Kanazawa I. Expression of the alpha1D subunit of the L-type voltage gated calcium channel in human liver. Int J Mol Med. 8(4):413-6,2001. PMID: 11562780

46. Hashida H, Goto J, Suzuki T, Jeong S, Masuda N, Ooie T, Tachiiri Y, Tsuchiya H, Kanazawa I. Single cell analysis of CAG repeat in brains of dentatorubral-pallidoluysian atrophy (DRPLA). J Neurol Sci. 190(1-2):87-93,2001. PMID: 11574112

47. Fukutake T, Shinotoh H, Nishino H, Ichikawa Y, Goto J, Kanazawa I, Hattori T. Homozygous Machado-Joseph disease presenting as REM sleep behaviour disorder and prominent psychiatric symptoms. Eur J Neurol. 9(1):97-100,2002. PMID: 11784384

48. Okada T, Gondo Y, Goto J, Kanazawa I, Hadano S, Ikeda JE. Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains the USP17 deubiquitinating enzyme gene. Hum Genet. 110(4):302-13,2002. Epub 2002 Mar 16. PMID: 11941478

49. Hazeki N, Tsukamoto T, Yazawa I, Koyama M, Hattori S, Someki I, Iwatsubo T, Nakamura K, Goto J, Kanazawa I. Ultrastructure of nuclear aggregates formed by expressing an expanded polyglutamine. Biochem Biophys Res Commun. 294(2):429-40,2002. PMID: 12051730

50. Ueda H, Goto J, Hashida H, Lin X, Oyanagi K, Kawano H, Zoghbi HY, Kanazawa I, Okazawa H. Enhanced SUMOylation in polyglutamine diseases. Biochem Biophys Res Commun. 293 (1):307-13,2002. PMID: 12054600

51. Tachikawa M, Nagai Y, Nakamura K, Kobayashi K, Fujiwara T, Han HJ,　Nakabayashi Y, Ichikawa Y, Goto J, Kanazawa I, Nakamura Y, Toda T. Identification of CAG repeat-containing genes expressed in human brain as candidate genes for autosomal dominant spinocerebellar ataxias and otherneurodegenerative diseases. J Hum Genet. 47(6):275-8,2002. PMID: 12111376

52. Liu W, Goto J, Wang YL, Murata M, Wada K, Kanazawa I: Specific inhibition of Huntington's disease gene expression by siRNA in cultured cells. Proc Japan Acad 79(Ser B):293-298,2003

53. Takahashi Y, Jeong SY, Ogata K, Goto J, Hashida H, Isahara K, Uchiyama Y, Kanazawa I. Human skeletal muscle calcium channel alpha1S is expressed in the basal ganglia: distinctive expression pattern among L-type Ca2+ channels. Neurosci Res. 45(1):129-37,2003. PMID: 12507731

54. Li M, Ishikawa K, Toru S, Tomimitsu H, Takashima M, Goto J, Takiyama Y, Sasaki H, Imoto I, Inazawa J, Toda T, Kanazawa I, Mizusawa H. Physical map and haplotype analysis of 16q- linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan. J Hum Genet. 48(3): 111-8,2003. PMID: 12624721

55. Hara K, Fukushima T, Suzuki T, Shimohata T, Oyake M, Ishiguro H, Hirota K, Miyashita A, Kuwano R, Kurisaki H, Yomono H, Goto J, Kanazawa I, Tsuji S. Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus. Neurology. 62(4):648-51,2004. PMID: 14981189

56. Hattori N, Komine M, Kaneko T, Shimazu K, Tsunemi Y, Koizumi M, Goto J, Hashimoto T. A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation. Br J Dermatol. 155(5): 1062-3,2006. PMID: 17034543

57. Saito Y, Matsumura K, Shimizu S, Ichikawa Y, Ochiai K, Goto J, Tsuji S, Shimizu T. Pigmentary macular dystrophy in spinocerebellar ataxia type 1. J Neurol Neurosurg Psychiatry. 77(11):1293,2006. PMID: 17043301

58. Matsumoto L, Yamamoto T, Higashihara M, Sugimoto I, Kowa H, Shibahara J, Nakamura K, Shimizu J, Ugawa Y, Goto J, Dalmau J, Tsuji S. Severe hypokinesis caused by paraneoplastic anti-Ma2 encephalitis associated with bilateral intratubular germ-cell neoplasm of the testes. Mov Disord. 22(5):728-31,2007. PMID: 17269131

59. Sawada H, Ishiguro H, Nishii K, Yamada K, Tsuchida K, Takahashi H, Goto J, Kanazawa I, Nagatsu T. Characterization of neuron-specific huntingtin aggregates in human huntingtin knock-in mice. Neurosci Res. 57(4):559-73,2007. Epub 2007 Jan 16. PMID: 17335925

60. Hara K, Momose Y, Tokiguchi S, Shimohata M, Terajima K, Onodera O, Kakita A, Yamada M, Takahashi H, Hirasawa M, Mizuno Y, Ogata K, Goto J, Kanazawa I, Nishizawa M, Tsuji S. Multiplex families with multiple system atrophy. Arch Neurol. 64(4):545-51,2007. PMID: 17420317

61. Arai N, Kishino A, Takahashi Y, Morita D, Nakamura K, Yokoyama T, Watanabe T, Ida M, Goto J, Tsuji S. Familial cases presenting very early onset autosomal dominant Alzheimer's disease with I143T in presenilin-1 gene: implication for genotype-phenotype correlation. Neurogenetics. 9(1):65-7,2008. Epub 2007 Oct 30. PMID: 17968601

62. Tsuji S, Onodera O, Goto J, Nishizawa M; Study Group on Ataxic Diseases. Sporadic ataxias in Japan--a population-based epidemiological study. Cerebellum. 7(2):189-97,2008. PMID: 18418674

63. Ishiura H, Morikawa M, Hamada M, Watanabe T, Kako S, Chiba S, Motokura T, Hangaishi A, Shibahara J, Akahane M, Goto J, Kwak S, Kurokawa M, Tsuji S. Lymphomatoid granulomatosis involving central nervous system successfully treated with rituximab alone. Arch Neurol. 65(5):662-5,2008. PMID: 18474745

64. Matsumoto H, Ohminami S, Goto J, Tsuji S. Progressive supranuclear palsy with wall-eyed bilateral internuclear ophthalmoplegia syndrome. Arch Neurol. 65(6):827-9,2008. PMID: 18541806

65. Anttonen AK, Siintola E, Tranebjaerg L, Iwata NK, Bijlsma EK, Meguro H, Ichikawa Y, Goto J, Kopra O, Lehesjoki AE. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome. Eur J Hum Genet. 16(8):961-9,2008. Epub 2008 Feb 20. PMID: 18285827

66. Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, Yomono H, Kurisaki H, Goto J, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology. 71(8):547-51,2008. Epub 2008 Jun 25. PMID: 18579805

67. Takahashi Y, Seki N, Ishiura H, Mitsui J, Matsukawa T, Kishino A, Onodera O, Aoki M, Shimozawa N, Murayama S, Itoyama Y, Suzuki Y, Sobue G, Nishizawa M, Goto J, Tsuji S. Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis. Arch Neurol. 65(10):1326-32,2008. PMID: 18852346

68. Kubota A, Hida A, Ichikawa Y, Momose Y, Goto J, Igeta Y, Hashida H, Yoshida K, Ikeda S, Kanazawa I, Tsuji S. A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations. Mov Disord. 24(3):441-5,2009. PMID: 19117339

69. Fukuda Y, Nakahara Y, Date H, Takahashi Y, Goto J, Miyashita A, Kuwano R, Adachi H, Nakamura E, Tsuji S. SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data. BMC Bioinformatics. 10:121,2009. PMID: 19393044

70. Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, Fukuda Y, Date H, Iwata A, Yamamoto M, Hattori N, Murata M, Toda T, Tsuji S. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol. 66(5):571-6,2009. PMID: 19433656

71. Wang K, Takahashi Y, Gao ZL, Wang GX, Chen XW, Goto J, Lou JN, Tsuji S. Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. Neurogenetics. 10(4):337-45,2009. Epub 2009 May 21. PMID: 19458970

72. Krueger KA, Tsuji S, Fukuda Y, Takahashi Y, Goto J, Mitsui J, Ishiura H, Dalton JC, Miller MB, Day JW, Ranum LP. SNP haplotype mapping in a small ALS family. PLoS One. 4(5):e5687,2009. PMID: 19479031

73. Nakatani-Enomoto S, Terao Y, Hanajima R, Matsuda S, Ohminami S, Inomata-Terada S, Matsumoto H, Yugeta A, Yamamoto T, Goto J, Yumoto M, Tsuji S, Ugawa Y. Motor cortical epilepsia partialis continua in a patient with a localized sensory cortical lesion. Clin Neurol Neurosurg. 111(9):762-5,2009. Epub 2009 Aug 3. PMID: 19647931

74. Hara K, Kokubo Y, Ishiura H, Fukuda Y, Miyashita A, Kuwano R, Sasaki R, Goto J, Nishizawa M, Kuzuhara S, Tsuji S. TRPM7 is not associated with amyotrophic lateral sclerosis- parkinsonism dementia complex in the Kii peninsula of Japan. Am J Med Genet B Neuropsychiatr Genet. 153B(1):310-3,2010. PMID: 19405049

75. Matsumoto H, Hanajima R, Terao Y, Hamada M, Yugeta A, Shirota Y, Yuasa K, Sato F, Matsukawa T, Takahashi Y, Goto J, Tsuji S, Ugawa Y. Efferent and afferent evoked potentials in patients with adrenomyeloneuropathy. Clin Neurol Neurosurg. 112(2):131-6,2010. Epub 2009 Dec 5. PMID: 19963315

76. Tamaoka A, Arai M, Itokawa M, Arai T, Hasegawa M, Tsuchiya K, Takuma H, Tsuji H, Ishii A, Watanabe M, Takahashi Y, Goto J, Tsuji S, Akiyama H. TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan. Intern Med. 49(4):331-4,2010. Epub 2010 Feb 15. PMID: 20154440

77. Mitsui J, Fukuda Y, Azuma K, Tozaki H, Ishiura H, Takahashi Y, Goto J, Tsuji S. Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer. J Hum Genet. 55(7):448-55,2010. Epub 2010 May 20. PMID: 20485446

78. Yoshida M, Takahashi Y, Koike A, Fukuda Y, Goto J, Tsuji S. A mutation database for amyotrophic lateral sclerosis. Hum Mutat. 31(9):1003-10,2010. PMID: 20556799

79. Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice A, Hattori N, Tsuji S. Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. Am J Hum Genet. 87(1):75-89,2010. PMID: 20598272

80. Shirota Y, Iwata A, Ishiura H, Hashimoto M, Goto J, Shimizu J, Hanajima R, Nakajima J, Takazawa Y, Tsuji S. A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with the diagnosis unexpectedly found at lung operation. Intern Med. 49(15): 1627-31,2010. Epub 2010 Aug 2. Review. PMID: 20686303

81. Shimizu J, Hatanaka Y, Hasegawa M, Iwata A, Sugimoto I, Date H, Goto J, Shimizu T, Takatsu M, Sakurai Y, Nakase H, Uesaka Y, Hashida H, Hashimoto K, Komiya T, Tsuji S. IFNβ-1b may severely exacerbate Japanese optic-spinal MS in neuromyelitis optica spectrum. Neurology. 75(16):1423-7,2010. Epub 2010 Sep 8. PMID: 20826711

82. Matsukawa T, Asheuer M, Takahashi Y, Goto J, Suzuki Y, Shimozawa N, Takano H, Onodera O, Nishizawa M, Aubourg P, Tsuji S. Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. Neurogenetics. 12(1):41-50,2011. Epub 2010 Jul 27. PMID: 20661612

83. Yoshikado T, Takada T, Yamamoto T, Yamaji H, Ito K, Santa T, Yokota H, Yatomi Y, Yoshida H, Goto J, Tsuji S, Suzuki H. Itraconazole-induced cholestasis: involvement of the inhibition of bile canalicular phospholipid translocator MDR3/ABCB4. Mol Pharmacol. 79(2): 241-50,2011. Epub 2010 Nov 5. PMID: 21056966

84. Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S. Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. Neurogenetics. 12(2):117-21,2011. Epub 2011 Jan 26. PMID: 21267618

85. Matsukawa T, Wang X, Liu R, Wortham NC, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa S, Shimizu J, Goto J, Proud CG, Tsuji S. Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. Neurogenetics. 12(3):259-61,2011. Epub 2011 Apr 12. PMID: 21484434

86. Seki N, Takahashi Y, Tomiyama H, Rogaeva E, Murayama S, Mizuno Y, Hattori N, Marras C, Lang AE, George-Hyslop PS, Goto J, Tsuji S. Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease. J Hum Genet. 56(9):671-5,2011. Epub 2011 Jul 28. PubMed PMID: 21796139

87. Ogawa N, Imai Y, Takahashi Y, Nawata K, Hara K, Nishimura H, Kato M, Takeda N, Kohro T, Morita H, Taketani T, Morota T, Yamazaki T, Goto J, Tsuji S, Takamoto S, Nagai R, Hirata Y. Evaluating Japanese Patients With the Marfan Syndrome Using High-Throughput Microarray- Based Mutational Analysis of Fibrillin-1 Gene. Am J Cardiol. 108(12):1801-7,2011. Epub 2011 Sep 10. PubMed PMID: 21907952.

88. Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S. Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease. Ann Neurol. 71(1):84-92,2012. PubMed PMID: 22275255.

89. Suzuki K, Zhou J, Sato T, Takao K, Miyagawa T, Oyake M, Yamada M, Takahashi H, Takahashi Y, Goto J, Tsuji S. DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles. Neurobiol Dis. 46(2):336-50,2012. Epub 2012 Feb 8. PubMed PMID: 22342974.

90. Hida A, Ishiura H, Arai N, Fukuoka H, Hasuo K, Goto J, Uesaka Y, Tsuji S, Takeuchi S. Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep. J Neurol. 259(10):2234-6,2012. Epub 2012 May 23. PubMed PMID: 22619055.

91. Taira M, Ishiura H, Mitsui J, Takahashi Y, Hayashi T, Shimizu J, Matsukawa T, Saito N, Okada K, Tsuji S, Sawamura H, Amano S, Goto J, Tsuji S. Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type. Neurogenetics. 13(3):237-43,2012. Epub 2012 May 24. PubMed PMID: 22622774.

92. Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, Kokubo Y, Kuzuhara S, Ranum LP, Tamaoki T, Ichikawa Y, Date H, Goto J, Tsuji S. C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol. 69(9):1154-8,2012. PubMed PMID: 22637429.

93. Naruse H, Takahashi Y, Kihira T, Yoshida S, Kokubo Y, Kuzuhara S, Ishiura H, Amagasa M, Murayama S, Tsuji S, Goto J. Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population. Amyotroph Lateral Scler. 13(6):562-6,2012. Epub 2012 Jun 18. PubMed PMID: 22708870.

94. Ishiura H, Sako W, Yoshida M, Kawarai T, Tanabe O, Goto J, Takahashi Y, Date H, Mitsui J, Ahsan B, Ichikawa Y, Iwata A, Yoshino H, Izumi Y, Fujita K, Maeda K, Goto S, Koizumi H, Morigaki R, Ikemura M, Yamauchi N, Murayama S, Nicholson GA, Ito H, Sobue G, Nakagawa M, Kaji R, Tsuji S. The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. Am J Hum Genet. 91(2):320-9,2012. PubMed PMID: 22883144; PubMed Central PMCID: PMC3415534.

95. Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 159B(8):951-7,2012. Epub 2012 Oct 4. PubMed PMID: 23038421.

96. Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I; Japan Spastic Paraplegia Research Consortium (JASPAC). A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). J Med Genet. 49(12):777-84,2012. PubMed PMID: 23188110.

97. Fujisawa T, Homma K, Yamaguchi N, Kadowaki H, Tsuburaya N, Naguro I, Matsuzawa A, Takeda K, Takahashi Y, Goto J, Tsuji S, Nishitoh H, Ichijo H. A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants. Ann Neurol. 72(5):739-49,2012. PubMed PMID: 23280792.

98. Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT, Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M, Stevanin G, Soong BW. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol. 72(6):859-69,2012. PubMed PMID: 23280837.

99. Naruse H, Iwata A, Takahashi Y, Ichihara K, Kamei S, Yamatoku M, Hirayama T, Suzuki N, Aoki M, Miyagawa T, Shimizu J, Tsuji S, Goto J. Familial amyotrophic lateral sclerosis with novel A4D SOD1 mutation with late age at onset and rapid progressive course. Neurol Clin Neurosci. 1(1):45-47,2013

100. Yamamoto T, Yokota K, Amao R, Maeno T, Haga N, Taguri M, Ohtsu H, Ichikawa Y, Goto J, Tsuji S. An open trial of long-term testosterone suppression in spinal and bulbar muscular atrophy. Muscle Nerve. 47(6):816-22,2013. Epub 2013 Mar 20. PubMed PMID: 23512333.

101. Multiple-System Atrophy Research Collaboration (Mitsui J, Matsukawa T, Ishiura H, Fukuda Y, Ichikawa Y, Date H, Ahsan B, Nakahara Y, Momose Y, Takahash Yi, Iwata A, Goto J, Yamamoto Y, Komata M, Shirahige K, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Takashima H, Kuwano R, Watanabe H, Ito M, Sobue G, Soma H, Yabe I, Sasaki H, Aoki M, Ishikawa K, Mizusawa H, Kanai K, Hattori T, Kuwabara S, Arai K, Koyano S, Kuroiwa Y, Hasegawa, K Yuasa T, Yasui K, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Kusunoki S, Osaki Y, Horiuchi M, Kondo T, Murayama S, Hattori N, Yamamoto M, Murata M, Satake W, Toda T, Dürr A, Brice A, Filla A, Klockgether T, Wüllner U, Nicholson G, Gilman S, Shults CW (deceased), Tanner CM, Kukull WA, Lee VMY, Masliah E, Low PA, Sandroni P, Trojanowski JQ, Ozelius L, Foroud T, Tsuji S). Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med. 369(3):233-44,2013. Epub 2013 Jun 12. PubMed PMID: 23758206.

102. Ichikawa Y, Ishiura H, Mitsui J, Takahashi Y, Kobayashi S, Takuma H, Kanazawa I, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S. Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1. J Neurol Sci. 331(1-2):158-60,2013. Epub 2013 Jun 18. PubMed PMID: 23786967.

103. Kuźma-Kozakiewicz M, Berdyński M, Morita M, Takahashi Y, Kawata A, Kaida K, Kaźmierczak B, Lusakowska A, Goto J, Tsuji S, Zekanowski C, Kwieciński H. Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 14(7-8):608-14,2013. Epub 2013 Jul 30. PubMed PMID: 23898858.

104. Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G; JaCALS, Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S. ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet. 93(5):900-5,2013. Epub 2013 Oct 10. PubMed PMID: 24119685; PubMed Central PMCID: PMC3824132.

105. Koh K, Ishiura H, Miwa M, Doi K, Yoshimura J, Mitsui J, Goto J, Morishita S, Tsuji S, Takiyama Y. Exome sequencing shows a novel de novo mutation in ATL1. Neurol Clin Neurosci. 2(1):1-4,2014

106. Doi K, Monjo T, Hoang PH, Yoshimura J, Yurino H, Mitsui J, Ishiura H, Takahashi Y, Ichikawa Y, Goto J, Tsuji S, Morishita S. Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing. Bioinformatics. 30(6):815-22,2014. Epub 2013 Nov 8. PubMed PMID: 24215022; PubMed Central PMCID: PMC3957077.

107. Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A, Sawai S, Shibuya K, Ueda N, Ichikawa Y, Kanazawa I, Goto J, Tsuji S. Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. J Hum Genet. 59(3):163-72,2014. Epub 2014 Jan 23. PubMed PMID: 24451228.

108. Shimazaki H, Honda J, Naoi T, Namekawa M, Nakano I, Yazaki M, Nakamura K, Yoshida K, Ikeda SI, Ishiura H, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Takiyama Y. Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation. J Neurol Neurosurg Psychiatry. 2014 Feb 12. doi: 10.1136/jnnp-2013-306981. [Epub ahead of print] PubMed PMID: 24521565

109. Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); the EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014 Sep;137(Pt 9):2444- 55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26. PubMed PMID: 24972706; PubMed Central PMCID: PMC4132646.

110. Saigoh K, Mitsui J, Hirano M, Shioyama M, Samukawa M, Ichikawa Y, Goto J, Tsuji S, Kusunoki S. The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene. Parkinsonism Relat Disord. 2015 Mar;21(3):332-4. doi: 10.1016/j.parkreldis.2014.12.028. Epub 2015 Jan 3. PubMed PMID: 25595316.

111. Mitsui J, Matsukawa T, Sasaki H, Yabe I, Matsushima M, Dürr A, Brice A, Takashima H, Kikuchi A, Aoki M, Ishiura H, Yasuda T, Date H, Ahsan B, Iwata A, Goto J, Ichikawa Y, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Ito M, Sobue G, Ishikawa K, Mizusawa H, Kanai K, Hattori T, Kuwabara S, Arai K, Koyano S, Kuroiwa Y, Hasegawa K, Yuasa T, Yasui K, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Kusunoki S, Osaki Y, Horiuchi M, Kondo T, Murayama S, Hattori N, Yamamoto M, Murata M, Satake W, Toda T, Filla A, Klockgether T, Wüllner U, Nicholson G, Gilman S, Tanner CM, Kukull WA, Stern MB, Lee VM, Trojanowski JQ, Masliah E, Low PA, Sandroni P, Ozelius LJ, Foroud T, Tsuji S. Variants associated with Gaucher disease in multiple system atrophy. Ann Clin Transl Neurol. 2015 Apr;2(4):417-26. doi: 10.1002/acn3.185. Epub 2015 Feb 28. PubMed PMID: 25909086; PubMed Central PMCID: PMC4402086.

112. Fujisawa T, Yamaguchi N, Kadowaki H, Tsukamoto Y, Tsuburaya N, Tsubota A, Takahashi H, Naguro I, Takahashi Y, Goto J, Tsuji S, Nishitoh H, Homma K, Ichijo H. A systematic immunoprecipitation approach reinforces the concept of common conformational alterations in amyotrophic lateral sclerosis-linked SOD1 mutants. Neurobiol Dis. 2015 Oct;82:478-486. doi: 10.1016/j.nbd.2015.08.010. Epub 2015 Aug 18. PMID: 26297318

113. Mano KK, Matsukawa T, Mitsui J, Ishiura H, Tokushige S, Takahashi Y, Sato NS, Nakamoto FK, Ichikawa Y, Nagashima Y, Terao Y, Shimizu J, Hamada M, Uesaka Y, Oyama G, Ogawa G, Yoshimura J, Doi K, Morishita S, Tsuji S, Goto J. Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum. Neurol Genet. 2016 Jan 7;2(1):e48. doi: 10.1212/NXG.0000000000000048. eCollection 2016 Feb. PMID: 27066585 Free PMC article.

114. Nishikawa A, Mori-Yoshimura M, Segawa K, Hayashi YK, Takahashi T, Saito Y, Nonaka I, Krahn M, Levy N, Shimizu J, Mitsui J, Kimura E, Goto J, Yonemoto N, Aoki M, Nishino I, Oya Y, Murata M. Respiratory and cardiac function in japanese patients with dysferlinopathy. Muscle Nerve. 2016 Mar;53(3):394-401. doi: 10.1002/mus.24741. Epub 2016 Jan 27. PMID: 26088049

115. Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Muñoz-Blanco JL, Esteban-Pérez J, Rábano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, García-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia. Nat Commun. 2016 Apr 15;7:11253. doi: 10.1038/ncomms11253. PMID: 27080313 Free PMC article.

116. Matsukawa T, Koshi KM, Mitsui J, Bannai T, Kawabe M, Ishiura H, Terao Y, Shimizu J, Murayama K, Yoshimura J, Doi K, Morishita S, Tsuji S, Goto J. Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing. J Neurol Sci. 2017 Jan 15;372:6-10. doi: 10.1016/j.jns.2016.11.009. Epub 2016 Nov 9. PMID: 28017249

117. Sato NS, Maekawa R, Ishiura H, Mitsui J, Naruse H, Tokushige SI, Sugie K, Tate G, Shimizu J, Goto J, Tsuji S, Shiio Y. Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH. Ann Clin Transl Neurol. 2017 May 22;4(6):415-421. doi: 10.1002/acn3.417. eCollection 2017 Jun. PMID: 28589169 Free PMC article.

118. Mitsui J, Koguchi K, Momose T, Takahashi M, Matsukawa T, Yasuda T, Tokushige SI, Ishiura H, Goto J, Nakazaki S, Kondo T, Ito H, Yamamoto Y, Tsuji S. Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations. Cerebellum. 2017 Jun;16(3):664-672. doi: 10.1007/s12311-017-0846-9. PMID: 28150130 Free PMC article.

119. Ikenaga C, Kubota A, Kadoya M, Taira K, Uchio N, Hida A, Maeda MH, Nagashima Y, Ishiura H, Kaida K, Goto J, Tsuji S, Shimizu J. Clinicopathologic features of myositis patients with CD8-MHC-1 complex pathology. Neurology. 2017 Sep 5;89(10):1060-1068. doi: 10.1212/WNL.0000000000004333. Epub 2017 Aug 9. PMID: 28794251

120. Naruse H, Ishiura H, Mitsui J, Date H, Takahashi Y, Matsukawa T, Tanaka M, Ishii A, Tamaoka A, Hokkoku K, Sonoo M, Segawa M, Ugawa Y, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S. Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation. Neurobiol Aging. 2018 Jan;61:255.e9-255.e16. doi: 10.1016/j.neurobiolaging.2017.08.030. Epub 2017 Sep 6. PMID: 29033165

121. Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S. Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5. PMID: 29507423

122. Tohnai G, Nakamura R, Sone J, Nakatochi M, Yokoi D, Katsuno M, Watanabe H, Watanabe H, Ito M, Li Y, Izumi Y, Morita M, Taniguchi A, Kano O, Oda M, Kuwabara S, Abe K, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Aoki M, Hattori N, Onodera O, Naruse H, Mitsui J, Takahashi Y, Goto J, Ishiura H, Morishita S, Yoshimura J, Doi K, Tsuji S, Nakashima K, Kaji R, Atsuta N, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS). Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2018 Apr;64:158.e15-158.e19. doi: 10.1016/j.neurobiolaging.2017.12.005. Epub 2017 Dec 11. PMID: 29398122

123. Ichinose Y, Ishiura H, Tanaka M, Yoshimura J, Doi K, Umeda T, Yamauchi H, Tsuchiya M, Koh K, Yamashiro N, Mitsui J, Goto J, Onishi H, Ohtsuka T, Shindo K, Morishita S, Tsuji S, Takiyama Y. Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion. Parkinsonism Relat Disord. 2019 Apr;61:57-63. doi: 10.1016/j.parkreldis.2018.11.028. Epub 2018 Dec 2. PMID: 30528172

124. Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Tanaka M, Doi K, Yoshimura J, Morishita S, Goto J, Toda T, Tsuji S. Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS. J Neurol Neurosurg Psychiatry. 2019 May;90(5):537-542. doi: 10.1136/jnnp-2018-318568. Epub 2018 Oct 24. PMID: 30355605

125. Naruse H, Matsukawa T, Ishiura H, Mitsui J, Takahashi Y, Takano H, Goto J, Toda T, Tsuji S. Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations. Neurogenetics. 2019 May;20(2):65-71. doi: 10.1007/s10048-019-00570-9. Epub 2019 Mar 7. PMID: 30847648

126. Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. PMID: 31332380

127. Naruse H, Takahashi Y, Ishiura H, Matsukawa T, Mitsui J, Ichikawa Y, Hamada M, Shimizu J, Goto J, Toda T, Tsuji S. Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia. Intern Med. 2019 Oct 1;58(19):2865-2869. doi: 10.2169/internalmedicine.2953-19. Epub 2019 Jun 7. PMID: 31178521 Free PMC article.

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