神経遺伝情報学

タイトル未設定

構成員名／英名表記	役職	所属
大野　欽司／OHNO Kinji	教授	神経遺伝情報学
増田　章男／MASUDA Akio	助教	神経遺伝情報学
伊藤　美佳子／ITO Mikako	助教	神経遺伝情報学

研究キーワード

RNA病態、細胞外分子欠損症、先天性筋無力症候群、脊髄小脳変性症

分野の概要

当分野は、生態防御学分野を改組し、神経疾患の病態・治療基礎研究を行うセクションとして新たに発足した。当研究室では、各種神経筋疾患のRNAレベルにおける分子病態機構の解明とその制御研究を行っている。また、細胞外マトリックス分子欠損症に対するタンパク標的療法の開発研究に取り組んでいる。さらに、bioinformatics手法を用いたヒトゲノムや遺伝子データベースの解析を、ベンチトップの研究手法と融合をさせる取り組みを行っている。

研究プロジェクト

研究業績

1. Itoh T, Fujita Y, Ito M, Masuda A, Ohno K, Ichihara M, Kojima T, Nozawa Y, Ito M. Molecular hydrogen suppresses FcepsilonRI-mediated signal transduction and prevents degranulation of mast cells. Biochem Biophys Res Commun 2009, 389: 651-656.
2. Kurosaki T, Matsuura T, Ohno K, Ueda S. Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene. Mol Biol Evol 2009, 26: 2573-2579.
3. Milone M, Shen X-M, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG. Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patiens. Neurology 2009, 73: 228-235.
4. Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K, Amorim A, Saraiva-Pereira ML, Jardim LB, Matsuura T, Sequeiros J, Silveira I. Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS ONE 2009, 4: e4553.
5. Fu Y, Ito M, Fujita Y, Ito M, Ichihara M, Masuda A, Suzuki Y, Maesawa S, Kajita Y, Hirayama M, Ohsawa I, Ohta S, Ohno K. Molecular hydrogen is protective against 6-hydroxydopamine-induced nigrostriatal degeneration in a rat model of Parkinson’s disease. Neuroscience Letters, 453: 81–85, 2009.
6. Bian Y, Masuda A, Matsuura T, Ito M, Okushin K, Engel AG, Ohno K. Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome. Hum Mol Genet, 18: 1229-1237, 2009.
7. Hagerman KA, Ruan H, Edamura KN, Matsuura T, Pearson CE, Wang YH. The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions. Gene, 434: 29-34, 2009.
8. Masuda A, Shen XM, Ito M, Matsuura T, Engel AG, Ohno K. hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. Hum Mol Genet 2008, 17: 4022-4035.
9. Ito M, Masuda A, Jinno S, Katagiri T, Krejci E, Ohno K. Viral vector-medicated expression of human collagen Q in cultured cells. Chem Biol Interact 2008, 175: 346-348.
10. Shen X-M, Fukuda T, Ohno K, Sine SM, Engel AG. Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. J Clin Invest 2008, 118: 1867-1876.
11. Gao K, Masuda A, Matsuura T, Ohno K. Human branch point consensus sequence is yUnAy. Nucleic Acids Res 2008, 36: 2257-2267.
12. Kurosaki T, Matsuura T, Ohno K, Ueda S. Long-range PCR for the diagnosis of spinocerebellar ataxia type 10. Neurogenetics 2008, 9: 151-152.
13. Saito T, Amakusa,Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LPW, Ohno K, Matsuura T. Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. Neurogenetics 2008, 9:61-63.
14. Gao R, Matsuura T, Coolbaugh M, Zuhlke C, Nakamura K, Rasmussen A, Siciliano MJ, Ashizawa T, Lin X. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet. 2008, 16:215-222.
15. Ichihara M, Murakumo Y, Masuda A, Matsuura T, Asai N, Jijiwa M, Ishida M, Shinmi J, Yatsuya H, Qiao S, Takahashi M, Ohno K. Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities. Nucleic Acids Research 2007, 35:e123.
16. Sahashi K, Masuda A, Matsuura T, Shinmi J, Zhang Z, Takeshima Y, Matsuo M, Sobue G, Ohno K. In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites. Nucleic Acids Research 2007, 35:5995-6003.
17. Masuda A, Hashimoto K, Yokoi T, Doi, T, Kodama, T, Kume, H, Ohno, K, Matsuguchi, T. Essential role of GATA transcriptional factors in the activation of mast cells. J Immunol 2007, 178:360-368.
18. Chiba N. Masuda A. Yoshikai Y. Matsuguchi T. Ceramide inhibits LPS-induced production of IL-5, IL-10, and IL-13 from mast cells. [In Vitro. Journal Article. Research Support, Non-U.S. Gov't] Journal of Cellular Physiology 2007, 213:126-36.
19. Alonso I, Jardim LB, Artigalas O, Saraiva-Pereira ML, Matsuura T, Ashizawa T, Sequeiros J, Silveira. Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology 2006; 66:1602-1604.
20. Wakamiya M, Matsuura T, Liu Y, Shuster GC, Gao R, Xu W, Sarkar P, Lin X, Ashizawa T. The role of ataxin 10 in spinocerebellar ataxia type 10 pathogenesis. Neurology 2006; 67:607-613.
21. Matsuura T, Fang P, Pearson CE, Jayakar P, Ashizawa T, Roa BB, Nelson DL. Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10. Repeat purity as a disease modifier? Am J Hum Genet 2006; 78:125-129.
22. Ohno K, Tsujino A, Shen, X-M, Milone M, Engel AG. Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries. J Med Genet 2005, 42:e53.
23. Shen X-M, Ohno K, Sine SM, Engel AG. Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker. Brain 2005, 128:345-355.
24. Buervenich S, Carmine A, Galter D, Shahabi HN, Johnels B, Holmberg B, Ahlberg J, Nissbrandt H, Eerol, Hanson M, Waseem S, Singleton A, McMahon FJ, Anvret M, Sydow O, Olson L. A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. Arch Neurol 2005, 62:74-78.
25. Seixas AI, Maurer MH, Lin M, Callahan C, Ahuja A, Matsuura T, Ross CA, Hisama FM, Silveira I, Margolis RL. FXTAS, SCA10, and SCA17 in American patients with movement disorders. Am J Med Genet A 2005, 136:87-89.
26. Musikacharoen T, Oguma A, Yoshikai Y, Chiba N, Masuda A, Matsuguchi T. Interleukin-15 induces IL-12 receptor beta1 gene expression through PU.1 and IRF 3 by targeting chromatin remodeling. Blood 105: 711-720, 2005.
27. Sahashi K, Ibi T, Ohno K, Sahashi K, Nakao N, Kondo H. Progressive myopathy with circulating autoantibody against giantin in the Golgi apparatus. Neurology 2004, 62:1891-1893.
28. Banwell BL, Ohno K, Sieb JP, Engel AG. Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. Neuromuscular Disorders 2004, 14:202-207.
29. Cai Y, Cronin CN, Engel AG, Ohno K, Hersh LB, Rodgers DW. Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders. Embo J 2004, 23:2047-2058,
30. Kimbell LM, Ohno K, Engel AG, Rotundo RL. C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse. J Biol Chem 2004, 279:10997-11005.
31. Ohno K, Engel AG. Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders. J Med Genet 2004, 41:e8.
32. Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 2004, 127:439-451.
33. Cagnoli C, Michielotto C, Matsuura T, Ashizawa T, Margolis RL, Holmes SE, Gellera C, Migone N, Brusco A. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J Mol Diagn 2004, 6:96-100.
34. Knight MA, Gardner RJ, Bahlo M, Matsuura T, Dixon JA, Forrest SM, Storey E. Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 2004, 127:1172-1181.
35. Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet 2004, 74:1216-1224.
36. Abe T, Arai T, Ogawa A, Hiromatsu T, Masuda A, Matsuguchi T, Nimura Y, Yoshikai Y. Kupffer cell-derived interleukin 10 is responsible for impaired bacterial clearance in bile duct-ligated mice. Hepatology 2004, 40:414-423.
37. Masuda A, Yoshikai Y, Kume H, Matsuguchi T. The interaction between GATA proteins and activator protein-1 promotes the transcription of IL-13 in mast cells. J Immunol 2004, 173:5564-5573.
38. Sugimoto K, Ohata M, Miyoshi J, Ishizaki H, Tsuboi N, Masuda A, Yoshikai Y, Takamoto M, Sugane K, Matsuo S, Shimada Y, Matsuguchi T. A serine/threonine kinase, Cot/Tpl2, modulates bacterial DNA-induced IL-12 production and Th cell differentiation. J Clin Invest 2004, 114:857-866.
39. Ohno K, Milone M, Shen X-M, Engel AG. A frameshifting mutation in CHRNE unmasks skipping of the preceding exon. Hum Mol Genet 2003, 12:3055-3066.
40. Ohno K, Sadeh M, Blatt I, Brengman JM, Engel AG. E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum Mol Genet 2003, 12:739-748.
41. Shen X-M, Ohno K, Tsujino A, Brengman JM, Gingold M, Sine SM, Engel AG. Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J. Clin. Invest. 2003, 111:497-505.
42. Tsujino A, Maertens C, Ohno K, Shen X-M, Fukuda T, Harper CM, Cannon SC, Engel AG. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A 2003, 100: 7377-7382.
43. Knight MA, Kennerson ML, Anney RJ, Matsuura T, Nicholson GA, Salimi-Tari P, Gardner RJ, Storey E, Forrest SM. Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol Dis 2003, 13:147-157.
44. Matsuura T, Yabe I, Sasaki H. Neurophysiological findings in SPG4 are variable, dependent on the type of spastin mutation. (*corresponding author). Neurology 2003, 60:1529-1532.
45. Potaman VN, Bissler JJ, Hashem VI, Oussatcheva EA, Lu L, Shlyakhtenko LS, Lyubchenko YL, Matsuura T, Ashizawa T, Leffak M, Benham CJ, Sinden RR. Unpaired structures in SCA10 (ATTCT)n.(AGAAT)n repeats. J Mol Biol 2003, 326:1095-1111.
46. Walker RH, Rasmussen A, Rudnicki D, Holmes SE, Alonso E, Matsuura T, Ashizawa T, Davidoff-Feldman B. Huntington's disease--like 2 can present as chorea-acanthocytosis. Neurology 2003, 61:1002-1004.
47. Matsuguchi T, Masuda A, Sugimoto K, Nagai Y, Yoshikai Y. JNK-interacting protein 3 associates with Toll-like receptor 4 and is involved in LPS-mediated JNK activation. Embo J 2003, 22:4455-4464.
48. Byring RF, Pihko H, Tsujino A, Shen X-M, Gustafsson B, Hackman P, Ohno K, Engel AG, Udd B. Congenital myasthenic syndrome associated with episodic apnea and sudden infant death. Neuromuscul Disord 2002, 12:548-553.
49. Ohno K, Engel AG, Shen X-M, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet 2002, 70:875-885.
50. Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen X-M, Brengman J, Edwardson S, Matoth I, Engel AG. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. Neurology 2002, 58:603-609.
51. Shen X-M, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG. Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. Neurology 2002, 59:1881-1888.
52. Sine SM, Shen X-M, Wang H-L, Ohno K, Lee W-Y, Tsujino A, Brengmann J, Bren N, Vajsar J, Engel AG. Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating. J Gen Physiol 2002, 120:483-496.
53. Fujigasaki H, Tardieu S, Camuzat A, Stevanin G, LeGuern E, Matsuura T, Ashizawa T, Durr A, Brice A. Spinocerebellar ataxia type 10 in the French population. Ann Neurol 2002, 51:408-409.
54. Grewal RP, Achari M, Matsuura T, Durazo A, Tayag E, Zu L, Pulst SM, Ashizawa T. Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10. Arch Neurol 2002, 59:1285-1290.
55. Matsuura T, Ashizawa T. Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10. Ann Neurol 2002, 51:271-272.
56. Matsuura T, Ranum LP, Volpini V, Pandolfo M, Sasaki H, Tashiro K, Watase K, Zoghbi HY, Ashizawa T. Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. Neurology 2002, 58:983-984.
57. Yabe I, Sasaki H, Tashiro K, Matsuura T, Takegami T, Satoh T. Spastin gene mutation in Japanese with hereditary spastic paraplegia. J Med Genet 2002, 39:e46.
58. Masuda A, Yoshikai Y, Aiba K, Matsuguchi T. Th2 cytokine production from mast cells is directly induced by lipopolysaccharide and distinctly regulated by c-Jun N-terminal kinase and p38 pathways. J Immunol 2002, 169:3801-3810.
59. Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, Udd B, Beyring R, Robb S, Kirkham FJ, Engel AG. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A 2001, 98:2017-2022.
60. Sahashi K, Yoneda M, Ohno K, Tanaka M, Ibi T. Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. J Med Genet 2001, 38:703-705.
61. Rasmussen A, Matsuura T, Ruano L, Yescas P, Ochoa A, Ashizawa T, Alonso E. Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Ann Neurol 2001, 50:234-239.
62. Tan EK, Nagamitsu S, Matsuura T, Khajavi M, Jankovic J, Ondo W, Ashizawa T. Alcohol dehydrogenase polymorphism and Parkinson's disease. Neurosci Lett 2001, 305:70-72.
63. Masuda A, Matsuguchi T, Yamaki K, Hayakawa T, Yoshikai Y. Interleukin-15 prevents mouse mast cell apoptosis through STAT6-mediated Bcl-xL expression. J Biol Chem 2001, 276:26107-26113.
64. Ohno K, Engel AG, Brengman JM, Shen X-M, Heidenreich F, Vincent A, Milone M, Tan E, Demirci M, Walsh P, Nakano S, Akiguchi I. The spectrum of mutations causing end-plate acetylcholinesterase deficiency. Ann Neurol 2000, 47:162-170.
65. Wang H-L, Ohno K, Milone M, Brengman JM, Evoli A, Batocchi AP, Middleton LT, Christodoulou K, Engel AG, Sine SM. Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J Gen Physiol 2000, 116:449-462.
66. Burgess DL, Matsuura T, Ashizawa T, Noebels JL. Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13. Epilepsia 2000, 41:24-27.
67. Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 2000, 26:191-194.
68. Nagamitsu S, Matsuura T, Khajavi M, Armstrong R, Gooch C, Harati Y, Ashizawa T. A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. Neurology 2000, 55:1697-1703.
69. Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF, Jr., Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptacek LJ. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology 2000, 55:224-230.
70. Tan EK, Matsuura T, Nagamitsu S, Khajavi M, Jankovic J, Ashizawa T. Polymorphism of NACP-Rep1 in Parkinson's disease: an etiologic link with essential tremor? Neurology 2000, 54:1195-1198.
71. Iwami KI, Matsuguchi T, Masuda A, Kikuchi T, Musikacharoen T, Yoshikai Y. Cutting edge: naturally occurring soluble form of mouse Toll-like receptor 4 inhibits lipopolysaccharide signaling. J Immunol 2000, 165:6682-6686.
72. Masuda A, Matsuguchi T, Yamaki K, Hayakawa T, Kubo M, LaRochelle WJ, Yoshikai Y. Interleukin-15 induces rapid tyrosine phosphorylation of STAT6 and the expression of interleukin-4 in mouse mast cells. J Biol Chem 2000, 275:29331-29337.
73. Middleton L, Ohno K, Christodoulou K, Brengman J, Milone M, Neocleous V, Serdaroglu P, Deymeer F, Ozdemir C, Mubaidin A, Horany K, Al-Shehab A, Mavromatis I, Mylonas I, Tsingis M, Zamba E, Pantzaris M, Kyriallis K, Engel AG. Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene. Neurology 1999, 53:1076-1082.
74. Ohno K, Anlar B, Engel AG. Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene. Neuromuscul Disord 1999, 9:131-135.
75. Ohno K, Brengman JM, Felice KJ, Cornblath DR, Engel AG. Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? Am J Hum Genet 1999, 65:635-644.
76. Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J Clin Invest 1999, 104:1403-1410.
77. Wang H-L, Milone M, Ohno K, Shen X-M, Tsujino A, Batocchi AP, Tonali P, Brengman J, Engel AG, Sine SM. Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat Neurosci 1999, 2:226-233.
78. Matsuura T, Achari M, Khajavi M, Bachinski LL, Zoghbi HY, Ashizawa T. Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Ann Neurol 1999, 45:407-411.
79. Matsuura T, Sasaki H, Yabe I, Hamada K, Hamada T, Shitara M, Tashiro K. Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2. J Neurol 1999, 246:835-839.
80. Fukudome T, Ohno K, Brengman JM, Engel AG. Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor. Neuroreport 1998, 9:1907-1911.
81. Fukudome T, Ohno K, Brengman JM, Engel AG. AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome. Ann N Y Acad Sci 1998, 841:199-202.
82. Milone M, Ohno K, Fukudome T, Shen X-M, Brengman J, Griggs RC, Engel AG. Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene. Ann N Y Acad Sci 1998, 841:184-188.
83. Milone M, Wang H-L, Ohno K, Prince R, Fukudome T, Shen X-M, Brengman JM, Griggs RC, Sine SM, Engel AG. Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit. Neuron 1998, 20:575-588.
84. Ohno K, Anlar B, Ozdirim E, Brengman JM, DeBleecker JL, Engel AG. Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor. Ann Neurol 1998, 44:234-241.
85. Ohno K, Anlar B, Ozdirim E, Brengman JM, Engel AG. Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes. Ann N Y Acad Sci 1998, 841:189-194.
86. Ohno K, Brengman J, Tsujino A, Engel AG. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proc Natl Acad Sci U S A 1998, 95:9654-9659.
87. Matsuura T, Sasaki H, Tashiro K. Atypical MR findings in Wilson's disease: pronounced lesions in the dentate nucleus causing tremor. J Neurol Neurosurg Psychiatry 1998, 64:161.
88. Ogata A, Nagashima K, Yasui K, Matsuura T, Tashiro K. Sustained release dosage of thyrotropin-releasing hormone improves experimental Japanese encephalitis virus-induced parkinsonism in rats. J Neurol Sci 1998, 159:135-139.
89. Yabe I, Sasaki H, Matsuura T, Takada A, Wakisaka A, Suzuki Y, Fukazawa T, Hamada T, Oda T, Ohnishi A, Tashiro K. SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. J Neurol Sci 1998, 156:89-95.
90. Milone M, Wang H-L, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG. Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. J Neurosci 1997, 17:5651-5665.
91. Ohno K, Quiram PA, Milone M, Wang H-L, Harper MC, Pruitt JN, 2nd, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet 1997, 6:753-766.
92. Wang H-L, Auerbach A, Bren N, Ohno K, Engel AG, Sine SM. Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation. J Gen Physiol 1997, 109:757-766.
93. Matsuura T, Sasaki H, Wakisaka A, Hamada T, Moriwaka F, Tashiro K. Autosomal dominant spastic paraplegia linked to chromosome 2p: clinical and genetic studies of a large Japanese pedigree. J Neurol Sci 1997, 151:65-70.
94. Nakamura M, Mita S, Matuura T, Nagashima K, Tanaka H, Ando M, Uchino M. The reduction of androgen receptor mRNA in motoneurons of X-linked spinal and bulbar muscular atrophy. J Neurol Sci 1997, 150:161-165.
95. Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. Ann Neurol 1996, 40:810-817.
96. Engel AG, Ohno K, Milone M, Wang H-L, Nakano S, Bouzat C, Pruitt JN, 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet 1996, 5:1217-1227.
97. Ohno K, Wang H-L, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron 1996, 17:157-170.
98. Ohno K, Yamamoto M, Engel AG, Harper CM, Roberts LR, Tan GH, Fatourechi V. MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy. Ann Neurol 1996, 39:761-766.
99. Sawano T, Tanaka M, Ohno K, Yoneda M, Ota Y, Terasaki H, Awaya S, Ozawa T. Mitochondrial DNA mutations associated with the 11778 mutation in Leber's disease. Biochem Mol Biol Int 1996, 38:693-700.
100. Matsuura T. [Study of androgen receptor expression and neuronal vulnerability in X-linked spinal and bulbar muscular atrophy]. Hokkaido Igaku Zasshi 1996, 71:785-799.
101. Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc Natl Acad Sci U S A 1995, 92:758-762.
102. Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG. Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 1995, 15:229-239.
103. Sasaki H, Wakisaka A, Fukazawa T, Iwabuchi K, Hamada T, Takada A, Mukai E, Matsuura T, Yoshiki T, Tashiro K. CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype. J Neurol Sci 1995, 133:128-133.
104. Ogata A, Matsuura T, Tashiro K, Moriwaka F, Demura T, Koyanagi T, Nagashima K. Expression of androgen receptor in X-linked spinal and bulbar muscular atrophy and amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 1994, 57:1274-1275.
105. Sato T, Denno R, Yuyama Y, Matsuura T, Kanisawa Y, Hirata K. Unusual complications caused by endo-clip migration following a laparoscopic cholecystectomy: report of a case. Surg Today 1994, 24:360-362.
106. Sano T, Ban K, Ichiki T, Kobayashi M, Tanaka M, Ohno K, Ozawa T. Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome. Pediatr Res 1993, 34:105-110.
107. Suoh H, Sahashi K, Ibi T, Tashiro M, Tanaka F, Mitsuma T, Ohno K. Progressive external ophthalmoplegia and myositis. Intern Med 1993, 32:319-322.
108. Matsuura T, Ogata A, Demura T, Moriwaka F, Tashiro K, Koyanagi T, Nagashima K. Identification of androgen receptor in the rat spinal motoneurons. Immunohistochemical and immunoblotting analyses with monoclonal antibody. Neurosci Lett 1993, 158:5-8.
109. Sahashi K, Tanaka M, Tashiro M, Ohno K, Ibi T, Takahashi A, Ozawa T. Increased mitochondrial DNA deletions in the skeletal muscle of myotonic dystrophy. Gerontology 1992, 38:18-29.
110. Aimoto Y, Matsuura T, Mizuno T, Hamada T, Tashiro K. Distribution of skeletal muscle involvement in Kennedy-Alter-Sung syndrome: A computed tomographic scan and manual muscle test study. Neurol Med 1992, 37:1-6.
111. Matsuura T, Demura T, Aimoto Y, Mizuno T, Moriwaka F, Tashiro K. Androgen receptor abnormality in X-linked spinal and bulbar muscular atrophy. Neurology 1992, 42:1724-1726.
112. Matsuura T, Kanisawa Y, Sato T, Saito T, Hirata K. Migration of "endo-clips" into common bile-duct after laparoscopic cholecystectomy. Lancet 1992, 340:306.
113. Matsuura T, Shimizu Y, Fujimoto H, Miyazaki T, Kano S. Minocycline-related lupus. Lancet 1992, 340:1553.
114. Ibi T, Sahashi K, Tashiro M, Suoh H, Ohno K. MNGIE syndrome - Clinical features and biogenetic study -. Neuro-opthalmol Jpn 1992, 9:59-63.
115. Tashiro M, Sahashi K, Ibi T, Suoh H, Ohno K. Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like Episodes (MELAS) syndrome. Neuro-opthalmol Jpn 1992, 9:331-338.
116. Ino H, Tanaka M, Ohno K, Hattori K, Ikebe S, Sano T, Ozawa T, Ichiki T, Kobayashi M, Wada Y. Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy. Lancet 1991, 337:234-235.
117. Ohno K, Tanaka M, Ino H, Suzuki H, Tashiro M, Ibi T, Sahashi K, Takahashi A, Ozawa T. Direct DNA sequencing from colony: analysis of multiple deletions of mitochondrial genome. Biochim Biophys Acta 1991, 1090:9-16.
118. Ohno K, Tanaka M, Sahashi K, Ibi T, Sato W, Yamamoto T, Takahashi A, Ozawa T. Mitochondrial DNA deletions in inherited recurrent myoglobinuria. Ann Neurol 1991, 29:364-369.
119. Ohno K, Tanaka M, Suzuki H, Ohbayashi T, Ikebe S, Ino H, Kumar S, Takahashi A, Ozawa T. Identification of a possible control element, Mt5, in the major noncoding region of mitochondrial DNA by intraspecific nucleotide conservation. Biochem Int 1991, 24:263-272.
120. Ota Y, Tanaka M, Sato W, Ohno K, Yamamoto T, Maehara M, Negoro T, Watanabe K, Awaya S, Ozawa T. Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome. Invest Ophthalmol Vis Sci 1991, 32:2667-2675.
121. Ozawa T, Tanaka M, Ino H, Ohno K, Sano T, Wada Y, Yoneda M, Tanno Y, Miyatake T, Tanaka T. Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease. Biochem Biophys Res Commun 1991, 176:938-946.
122. Ozawa T, Tanaka M, Sugiyama S, Ino H, Ohno K, Hattori K, Ohbayashi T, Ito T, Deguchi H, Kawamura K. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy. Biochem Biophys Res Commun 1991, 177:518-525.
123. Tanaka M, Ino H, Ohno K, Ohbayashi T, Ikebe S, Sano T, Ichiki T, Kobayashi M, Wada Y, Ozawa T.Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Biophys Res Commun 1991, 174:861-868.
124. Ota Y, Awaya S, Tanaka M, Sato W, Ohno K, Yamamoto T, Ozawa T, Ota I. Detection of deletions in platelet mitochondrial DNA in Kearns-Sayre syndrome using polymerase chain reaction. Nippon Ganka Gakkai Zasshi 1991, 95:776-782.
125. Tanaka M, Ohno K, Sahashi K, Ibi T, Tashiro M, Ino H, Takahashi A, Ozawa T. Myoglobinuria caused by multiple deletions of mitochondrial DNA. Rinsho Byori 1991, 39:133-139.
126. Matsuura T, Aimoto Y, Moriwaka F, Tashiro K, Nonomura K. [A case of Kennedy-Alter-Sung syndrome with type IIa hyperlipidemia--study on sex hormone receptor and lipid metabolism]. Rinsho Shinkeigaku 1991, 31:291-295.
127. Tashiro M, Sahashi K, Ibi T, Ohno K, Tanaka M, Ozawa T. Mitochondrial abnormalities in myotonic dystrophy. Igaku no ayumi 1991, 154:783-784.
128. Ozawa T, Tanaka M, Ikebe S, Ohno K, Kondo T, Mizuno Y. Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis. Biochem Biophys Res Commun 1990, 172:483-489.
129. Ozawa T, Tanaka M, Sugiyama S, Hattori K, Ito T, Ohno K, Takahashi A, Sato W, Takada G, Mayumi B. Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochem Biophys Res Commun 1990, 170:830-836.
130. Sahashi K, Ohno K, Tanaka M, Ibi T, Yamamoto T, Tashiro M, Sato W, Takahashi A, Ozawa T. Cytoplasmic body and mitochondrial DNA deletion. J Neurol Sci 1990, 99:291-300.
131. Ikebe S, Tanaka M, Ohno K, Sato W, Hattori K, Kondo T, Mizuno Y, Ozawa T. Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence. Biochem Biophys Res Commun 1990, 170:1044-1048.
132. Tanaka M, Ino H, Ohno K, Hattori K, Sato W, Ozawa T, Tanaka T, Itoyama S. Mitochondrial mutation in fatal infantile cardiomyopathy. Lancet 1990, 336:1452.
133. Matsumoto H, Osanai S, Onodera S, Akiba Y, Nakano H, Oomatsu H, Matsuura T, Yahara O, Tobise K, Sakai H. [Respiratory pathophysiology during sleep in patients with myotonic dystrophy]. Nihon Kyobu Shikkan Gakkai Zasshi 1990, 28:961-970.
134. Ibi T, Ohno K, Tanaka M, Sahashi K, Ozawa T. Three cases of chronic progressive external ophthalmoplegia with mitochondrial DNA deletions. Shinkeinaika 1990, 32:310-312.
135. Sahashi K, Ibi T, Tashiro M, Ohno K, Nakao N, Takahashi A. Facial muscle involvement in chronic progressive external ophthalmoplegia - Clinical features and etio-pathological analysis -. Facial N Res Jpn 1990, 10:89-92.
136. Tanaka M, Yoneda M, Ohno K, Sato W, Yamamoto M, Nonaka I, Horai S, Ozawa T. Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. J Inherit Metab Dis 1989, 12:359-362.
137. Tanaka M, Sato W, Ohno K, Yamamoto T, Ozawa T. Direct sequencing of deleted mitochondrial DNA in myopathic patients. Biochem Biophys Res Commun 1989, 164:156-163.
138. Sahashi K, Ohno K, Ibi T, Tanaka M, Tsuchiya I, Yoneda M, Sato W, Ozawa T, Takahashi A. Chronic progressive external ophthalmoplegia and mitochondrial DNA deletions. Igaku no ayumi 1989, 149:585-586.
139. Sato W, Tanaka M, Ohno K, Yamamoto T, Takada G, Ozawa T. Multiple populations of deleted mitochondrial DNA detected by a novel gene amplification method. Biochem Biophys Res Commun 1989, 162:664-672.
140. Tanaka-Yamamoto T, Tanaka M, Ohno K, Sato W, Horai S, Ozawa T. Specific amplification of deleted mitochondrial DNA from a myopathic patient and analysis of deleted region with S1 nuclease. Biochim Biophys Acta 1989, 1009:151-155.
141. Ozawa T, Yoneda M, Tanaka M, Ohno K, Sato W, Suzuki H, Nishikimi M, Yamamoto M, Nonaka I, Horai S. Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy. Biochem Biophys Res Commun 1988, 154:1240-1247.
142. Ohno K, Takahashi N, Okamoto S. A case of pandysautonomia following rubella infection. Rinsho Shinkeigaku 1987, 27:454-457.

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当研究室は、「神経筋疾患をRNA病態解明」と「神経筋接合部の正常機構・病態機構の解明と制御」を主な研究の柱としており、これらの研究分野に興味のある修士課程・博士課程の大学院生を募集しています。また、バイオインフォマッティックス手法を使ったmRNAスプライシング研究も行っており、プログラムスキルを持った学生を募集しています。また、３年次学士入学編入者も受け入れております。将来を嘱望される研究者を育てることが私たちの重要な責務であると思っております。


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所在地	〒466-8550　名古屋市昭和区鶴舞町65　名古屋大学大学院医学系研究科神経遺伝情報学（医系研究棟２号館４階）

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• 地図番号D（医系研究棟２号館４階) 

Reviews and Chapters in Books (Published in English)

• Ohno K, Engel AG. Splicing abnormalities in congenital myasthenic syndromes. Acta Myologica 2005; 24: 50-54.
• Engel AG, Ohno K, Sine SM. (2004) in Myology (Engel AG, Franzini-Armstrong C, eds) 3rd Ed., pp. 1801-1844, McGraw Hill, New York
• Sine SM, Engel AG, Wang H-L, Ohno K. (2004) in Molecular and Cellular Insights into Ion Channel Biology (Maue RA, ed) Vol. 32, pp. 95-119, Elsevier Science, Amsterdam
• Matsuura T, Ashizawa T (updated April 2002, May 2004) Spinocerebellar Ataxia Type 10 in: /GeneReviews /at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington , Seattle . 1997-2004. Available at www.genetests.org .
• Engel AG, Ohno K, Harper CM. (2003) in Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach (Jones HR, De Vivo D C, Darras BT, eds), pp. 555-574, Butterworth and Heinemann, Boston
• Engel AG, Ohno K, Shen X-M, Sine SM. Congenital Myasthenic Syndromes: Multiple Molecular Targets At The Neuromuscular Junction. Ann N Y Acad Sci 998: 138-160, 2003.
• Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: Progress over the past decade. Muscle Nerve 27: 4-25, 2003.
• Engel AG, Ohno K, Sine SM. Neurological diseases: Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat Rev Neurosci 4: 339-352, 2003.
• Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: A diverse array of molecular targets. J Neurocytol 32: 1017-1037, 2003.
• Sine SM, Wang HL, Ohno K, Shen XM, Lee WY, Engel AG. Mechanistic diversity underlying fast channel congenital myasthenic syndromes. Ann N Y Acad Sci 998: 128-137, 2003.
• Engel AG, Ohno K. (2002) in Advances in Neurology (Pourmand R, Harati Y, eds) Vol. 88, pp. 203-215, Lippincott Williams & Wilkins, Philadelphia
• Engel AG, Ohno K, Selcen D. (2002) in Structural and Molecular Basis of Skeletal Muscle Diseases (Karpati G, ed), pp. 170-179, International Society of Neuropathology/World Federation of Neurology. ISN Neuropath Press, Basel
• Engel AG, Ohno K, Sine SM. The spectrum of congenital myasthenic syndromes. Mol Neurobiol 26: 347-367, 2002.
• Ohno K, Engel AG. Congenital myasthenic syndromes: genetic defects of the neuromuscular junction. Curr Neurol Neurosci Rep 2: 78-88, 2002.
• Matsuura T, Ashizawa T. Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion. Adv Exp Med Biol 2002; 516:79-97.
• Matsuura T, Ashizawa T. Spinocerebellar Ataxia Type 10: A Disease Caused by a Large ATTCT Repeat Expansion. In: Trinucleotide Expansions and Human Diseases. Timchenko L ed. Landes Bioscience, Georgetown 2002.
• Engel AG, Ohno K, Sine SM. (2001) in Channelopathies of the nervous system (Rose MR, Griggs RC, eds), pp. 179-191, Butterworth and Heinemann, Boston
• Matsuura T, Ashizawa T. Spinocerebellar ataxia type 10. In: Genetics of Movement Disorders. Pulst SM ed. Academic Press, San Diego 2001.
• Engel AG, Ohno K, Shen XM, Milone M, Tsujino A. Congenital myasthenic syndromes in the molecular era. Acta Myologica 19: 5-21, 2000.
• Engel AG, Ohno K, Stans AA. (2000) in Neuromuscular Diseases: From Basic Mechanisms To Clinical Management (Demeer F, ed) Vol. 18, pp. 96-112, Karger, Basel
• Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes - Recent advances. Arch Neurol 56: 163-167, 1999.
• Engel AG, Ohno K, Sine SM. (1999) in Myasthenia gravis and myasthenic disorders (Engel AG, ed), pp. 251-297, Oxford University Press, New York
• Momoi MY, Momoi T, Kurata T, Matsuura T. A glycoprotein detected with peanut agglutin: a specific marker of myelin and human lymphocyte lines. In: Japan intractable diseases research foundation publication No.26 Neuroimmunological diseases, recent in pathogenesis and treatment, Igata A ed., University of Tokyo Press , Tokyo , 1999, pp. 65-70.
• Engel AG, Ohno K, Milone M, Sine SM. Congenital myasthenic syndromes: New insights from molecular genetic and patch-clamp studies. Ann NY Acad Sci 841: 140-156, 1998.
• Engel AG, Ohno K, Sine SM. Congenital Myasthenic Syndromes - Experiments of Nature. J Physiol Paris 92: 113-117, 1998.
• Engel AG, Ohno K, Wang H-L, Milone M, Sine SM. The molecular basis of congenital myasthenic syndromes: Mutations in the acetylcholine receptor. The Neuroscientist 4: 185-194, 1998.
• Engel AG, Ohno K, Milone M, Sine SM. Congenital myasthenic syndromes caused by mutations in acetylcholine receptor genes. Neurology 48: S28-S35, 1997.
• Ozawa T, Tanaka M, Hayakawa M, Sugiyama S, Ino H, Sato W, Ohno K, Ikebe S, Yoneda M. (1991) in New Era of Bioenergetics (Mukohata Y, ed), pp. 247-272, Academic Press, Tokyo
• Ozawa T, Tanaka M, Hayakawa M, Sugiyama S, Sato W, Ohno K, Ikebe S, Yoneda M. (1991) in Progress in Neuropathology Vol. 7, Mitochondrial Encephalomyopathies (Sato T, ed) Vol. 7, pp. 141-151, Raven Press, New York
• Ozawa T, Tanaka M, Sato W, Ohno K, Yoneda M. (1991) in Proceedings of the XIth International Congress of Neuropathology, pp. 481-485, Jpn. Soc. Neuropathol., Tokyo
• Ozawa T, Tanaka M, Sato W, Ohno K, Yoneda M, Yamamoto T. (1991) in Molecular Basis of Neurological Disorders and their Treatment (Gorrod JW, Albano O, Ferrari E, Papa S, eds), pp. 173-190, Chapman and Hall, London
• Sahashi K, Ibi T, Ohno K, Tanaka M, Tashiro M, Tsuchiya I, Nakao M, Yuasa K, Mitsuma T, Takahashi A, Ozawa T. (1991) in New Trends in Autonomic Nervous System Research (Yoshikawa Mea, ed), pp. 229-230, Elsevier Science Publishers, B. V.
• Tanaka M, Hattori K, Ito H, Ohbayashi T, Ohno K, Sato W, Sugiyama S, Ozawa T. (1991) in Mitochondrial Encephalomyopathies (Sato T, ed), pp. 225-236, Raven Press, New York
• Ozawa T, Tanaka M, Sato W, Ohno K, Sugiyama S, Yoneda M, Yamamoto T, Hattori K, Ikebe S, Tashiro M, Sahashi K. (1990) in Bioenergetics: Molecular Biology, Biochemistry, and Pathology (Kim CH, Ozawa T, eds), pp. 413-427, Plenum, New York and London
• Tanaka M, ., Sato W, Ohno K, Yamamoto T, Ozawa T. (1990) in Bioenergetics: Molecular Biology, Biochemistry, and Pathology (Kim CH, Ozawa T, eds), pp. 441-449, Plenum, New York

Reviews and Chapters in Books (Published in Japanese)

• Ohno K, Engel AG, Sahashi K. (2003) in Annual Review of Neurology (Yanagisawa N, al e, eds), pp. 271-274, Chuugai Igakusha
• 増田章男、松口徹也. Toll like receptorを介するマスト細胞の活性化 臨床免疫・第39巻6号：633-637・2003
• 千葉紀香、増田章男、松口徹也. LPS刺激によるマスト細胞からのサイトカイン産生機構におけるセラミドの役割 アレルギー科 第15巻3号：220-227, 2003
• 千葉紀香、増田章男、松口徹也. LPS刺激によるマスト細胞からのサイトカイン産生機構におけるセラミドの役割 アレルギー科 第15巻3号：220-227, 2003
• Ohno K, Tanaka M, Sahashi K. Electron transfer flavopotein. Nippon Rinsho 60: 113-117, 2002.
• Ohno K, Sahashi K. Juvenile myasthenia gravis. Nippon Rinsho 36: 340-343, 2001.
• Ashizawa T, Matsuura T. Spinocerebellar ataxia type 10 (SCA10): a disease caused by a novel pentanucleotide repeat expansion. Rinsho Shinkeigaku. 2001; 41:1120-1122 (Japanese).