2. Matsumura K, Toda T, Hasegawa T, Kamei M, Imoto N, Shimizu T. A Japanese family with two types of muscular dystrophy: DNA analysis and the dystrophin test. J Child Neurol  6:251-256, 1991

3. Hara J, Kawa-Ha K, Yumura-Yagi K, Kurahashi K, Tawa A, Ishihara S,  Inoue M, Murayama N, and Okada S. In vivo and in vitro expression of myeloid antigens on B-lineage acute lymphoblastic leukemia cells.　Leukemia 5:19-25, 1991

4. Kurahashi H, Hara J, Yumura-Yagi K, Murayama N, Inoue M, Ishihara S, Tawa A, Okada A, Kawa-Ha K. Monoclonal nature of transient abnormal myelopoesis in Down's syndrome.　Blood 77: 1161-1163, 1991

5. Yumura-Yagi K, Hara J, Kurahashi H,  Okamura J, Koizumi S, Toyoda Y, Murayama N, Inoue M, Ishihara S, Tawa A, Nishiura T, Kaneyama Y, Okada S, Kawa-Ha K.　Clinical significance of CD7-positive stem cell leukemia.　Cancer 68: 2273-2280, 1991

6. Yumura-Yagi K, Hara J, Kurahashi H, Nishiura T, Kaneyama Y, Osugi Y, Sakata N, Inoue M, Tawa A, Kawa-Ha K. Mixed phenotype of blasts in acute megekaryocytic leukemia and transient abnormal myelopoiesis in Down's syndrome.　Br J Haematol 81: 520-525, 1992

7. Kurahashi H Hara J, Yumura-Yagi K, Tawa A, Kawa-Ha K. Transient abnormal myelopoiesis in Down's syndrome.　Leukemia Lymphoma 8: 465-475, 1992

8. Yana I, Nakamura T, Shin E, Karakawa K, Kurahashi H, Kurita Y, Kobayashi T, Mori T, Nishisho I, and Takai S. Inactivation of the p53 gene is not required for tumorigenesis of medullary thyroid carcinoma or pheochromocytoma.　Jpn J Cancer Res 83: 1113-1116, 1992

9. Sakata N, Hara J, Osugi Y, Kurahashi H, Inoue M, Yumura-Yagi K, Tawa A, Kawa-Ha K. Genotypic typing using amplified variable number of tandem repeats with poymerase chain reaction following allogeneic bone marrow transplantation.　Jpn J Pediatr Hematol 6: 468-476, 1992

10. Takahashi N, Nagai Y, Ueno S, Saeki Y, Yanagihara T. Human peripheral blood lymphocytes express D5 dopamine receptor gene and transcribe the two pseudogenes.　FEBS Letters 314: 23-25,1992

11. Watanabe M, Kondo I, Nissato S, Wakisaka A, Toda T, Ikeda J, Wasmuth JJ, Gusella JF, Kanazawa I. A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families.  Jpn J Hum Genet  38:193-201, 1993

12. Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Ohno K, Misugi N, Sasaki Y, Takada K, Kawai M, Otani K, Murakami T, Saito K, Fukuyama Y, Shimizu T, Kanazawa I, Nakamura Y. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33.  Nature Genet 5:283-286, 1993

13. Shin E, Fujita S, Takami K, Kurahashi H, Kurita Y, Kobayashi T, Mori T, NishishoI, and Takai S. Deletion mapping of chromosome 1p and 22q in pheochromocytoma. 　Jpn J Cancer Res 84: 402-408, 1993

14. Fujita S, Shin E, Nakamura T, Kurahashi H, Kaneda Y, Tanaka K, Mori T, Takai S, and Inishisho I. Construction of radiation-reduced hybrids and their use in mapping of microclones from chromosome 10p11.2-q11.2. Jpn J Hum Genet 38: 361-370, 1993

15. 2. Nagai Y, Ueno S, Saeki Y, Soga F, Yanagihara T.  Expression of the D3 dopamine receptor gene and a novel variant transcript generated by  alternative splicing in human peripheral blood lymphocytes. Biochemical Biophysical Research Communications 194:368-374 ,1993

16. Saeki Y, Ueno S, Mizuno R, Nishimura T, Fujimura H, Nagai Y, Yanagihara T. Molecular cloning of a novel putative G protein-coupled receptor (GPCR21) which is expressed predominantly in mouse central nervous system. FEBS Letters 336: 317-322 ,1993

17. Toda T, Iida A, Miwa T, Nakamura Y, Imai T. Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1)  Hum Mol Genet 3:465-470, 1994

18. Toda T, Ikegawa S, Okui K, Kondo E, Saito K, Fukuyama Y, Yoshioka M, Kumagai T, Suzumori K, Kanazawa I, Nakamura Y. Refined mapping of a gene responsible for Fukuyama type congenital muscular dystrophy; evidence for strong linkage disequilibrium. Am J Hum Genet 55:946-950, 1994

19. Kurahashi H, Akagi K, Karakawa K, Nakamura T, Jan P. Dumanski, Sano T, Okada S, Takai S, Nishisho I. Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome. Hum Genet 93: 248-254, 1994

20. Kurahashi H, Akagi K, T Melot, O Delattre, G Thomas, Okada S, Takai S, Nishisho I. Refined mapping of eight cosmid markers on human chromosome 22. Jpn J Hum Genet 39: 243-248, 1994
 

21. Takami K, Inui H, Nagayama K, Watatani M, Yasutomi M, Kurahashi H, Mori T, Takai S, Nishisho I. Low grade amplification of MDM2 gene in a subset of human breast cancers without p53 alterations. Breast Cancer 1: 95-102, 1994

22. Kobayashi K, Mizuno K, Hida A, Komaki R, Tomita K, Matsushita I, Namiki M, Iwamoto T, Tamura S, Minowada S, Nakahori Y, Nakagome Y. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum Mol Genet 3:1965-1967,1994

23. Nakahori Y, Kobayashi K, Komaki R, Matsushita I, Nakagome Y.  A locus of the candidate gene family for azoospermia factor (YRRM2) is polymorphic with a null allele in Japanese males. Hum Mol Genet 3:1709,1994

24. 4. Hirano M, Fujii J, Nagai Y, Sonobe M, Okamoto K, Araki H, Taniguchi N, Ueno S. A new variant Cu / Zn superoxide dismutase (Val7->Glu) deduced from lymphocyte mRNA  sequences from Japanese patients with familial amyotrophic lateral sclerosis. Biochemical Biophysical Research Communications 204:572-577 ,1994

25. Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y. Genetic identity of Fukuyama type congenital muscular dystrophy and Walker-Warburg syndrome. Ann Neurol  37:99-101, 1995

26. Toda T, Segawa M, Nomura Y, Nonaka I, Saito K, Fukuyama Y, Shimizu T, Kanazawa I, Nakamura Y. Localization of a gene responsible for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33.  Muscle Nerve 18:463-466, 1995

27. Toda T, Watanabe T, Matsumura K, Sunada Y, Yamada H, Nakano I, Mannen T, Kanazawa I, Shimizu T. Three-dimenssional MR imaging of brain surface anomalies in Fukuyama-type congenital muscular dystrophy. Muscle Nerve 18:508-517, 1995

28. Toda T, Ikegawa S, Miyake M, Nakahori Y, Nakamura Y. Dinucleotide repeat polymorphism on chromosome 9q32. Jpn J Hum Genet 40:333-334, 1995

29. Yana I, Kurahashi H, Nakamori H, Kameyama M, Nakamura T, Takami M, Mori T, Takai S, Nishisho I. Frequent loss of heterozygosity at telomeric loci on 22q in sporadic colorectal cancers. Int J Cancer 60:174-177, 1995

30. Akagi K, Kurahashi H, Arita N, Hayakawa T, Monden M, Mori T, Takai S, Nishisho I. Deletion mapping of the long arm of chromosome 22 in human meningiomas. Int J Cancer 60: 178-182, 1995

31. Kurahashi H, Oue T, Akagi K, Fukuzawa M, Okada A, Tawa A, Okada S, Nishisho I. Allelic status on 1p and 11p15 in neuroblastoma and benign ganglioneuroma. Int J Oncol, 6: 669-674, 1995

32. Kurahashi H, Akagi K, Inazawa J, Ohta T, Niikawa N, Kayatani F, Sano T, Okada S, Nishisho I. Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Hum Mol Genet, 4:541-550, 1995

33. Osugi Y, Hara J, Kurahashi H, Sakata N, Inoue M, Yumura-Yagi K, Kawa-Ha K, Okada S, Tawa A.Age-related changes in surface antigens on peripheral lymphocytes of healthy children. Clin Exp Immunol, 100: 543-548, 1995

34. Makita Y, Masuno M, Imaizumi K, Tachibana K, Kuroki Y, Kurahashi H. Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion. J Med Genet, 32: 669, 1995

35. Takami K, Yana I, Kurahashi H, Nishisho I. Multistep carcinogenesis in colorectal cancers. Southeast Asian J Tropical Med and Public Health, 26, supp1:190-196, 1995

36. Kurahashi H, Takami K, Yana I, Akagi K, Okada S, Nishisho I. EcoRI RFLP in human APC gene. Jpn J Hum Genet, 40: 339-341, 1995

37. Kurahashi H, Takami K, Oue T, Kusafuka T, Okada O, Tawa A, Okada S, Nishisho I.  Biallelic inactivation of the APC gene in hepatoblastoma. Cancer Res, 55: 5007-5011, 1995

38. 5. Hirano M, Tamaru Y, Nagai Y, Ito H, Imai T, Ueno S. Exon skipping caused by a base substitution at a splice site in the GTP cyclohyrolase I gene in a Japanese family with hereditary progressive dystonia / dopa responsive dystonia. Biochemical Biophysical Research Communications 213:645-651,1995

39. Nakano I, Funahashi M, Takada K, Toda T. Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? -  Pathological study of the cerebral cortex of an FCMD fetus. Acta Neuropathol 91:313-321, 1996

40. Nakahori Y, Kuroki Y, Komaki R, Kondoh N, Namiki M, Iwamoto T, Toda T, Kobayashi K. The Y chromosome region essential for spermatogenesis. Hormone Res 46(suppl 1):20-23, 1996

41. Ikegawa S, Toda T, Okui K, Nakamura Y. Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrilin. Genomics 35:590-592, 1996

42. Yamamoto T, Komori T, Shibata N, Kobayashi M, Kondo E, Saito K, Osawa M, Toda T. Fukuyama congenital muscular dystrophy: Cortical dysplasia of the cerebrum in a 20 week fetus. Neuropathology  16:184-189, 1996

43. Toda T, Miyake M, Kobayashi K, Mizuno K, Saito K, Osawa M, Nakamura Y, Kanazawa I, Nakagome Y, Tokunaga K, Nakahori Y. Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. Am J Hum Genet 59:1313-1320, 1996

44. Kondo E, Saito K, Toda T, Osawa M, Yamamoto T, Kobayashi M, Fukuyama Y. Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis. Am J Med Genet 66:169-174, 1996

45. Kotliarova SE, Toda T, Matsushita I, Nakagome Y, Nakahori Y. A novel (CA)n polymorphism in 6p21.1-21.2. Jpn J Hum Genet 41:423-425, 1996

46. Kurahashi H, Nakayama T, Osugi Y, Tsuda E, Masuno M, Imaizumi K,  Kamiya T, Sano T, Okada S, Nishisho I. Deletion mapping of 22q11 in CATCH22 syndrome: Identification of a second critical region.Am J Hum Genet, 58:1377-1381, 1996

47. Nagai Y, Hirano M, Mori T, Takakura Y, Tamai S, Ueno S. Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp). Neurology 46: 571-574,1996

48. Nagai Y, Ueno S, Saeki Y, Soga F, Hirano M, Yanagihara T. Decrease of the D3 dopamine receptor mRNA expression in lymphocytes from patients with  Parkinson's disease. Neurology 46:791-795 ,1996

49. Iwano M, Ueno S, Miyazaki M, Harada T, Nagai Y, Hirano M, Dohi Y, Akai   Y, Kurioka  H, Dohi  K.  Molecular cloning and expression of a novel peptide (LN1) gene: Reduced expression in the  renal cortex of lupus nephritis in MRL/lpr mouse. Biochemical Biophysical Research Communications 229:355-360 ,1996

50. Miyake M, Nakahori Y, Matsushita I, Kobayashi K, Mizuno K, Hirai M, Kanazawa I, Nakagome Y, Tokunaga K, Toda T. YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31. Genomics 40:284-293, 1997

51. Kondo-Iida E, Saito K, Osawa M, Ishihara T, Toda T, Fukuyama Y. Polymorphism analysis of Fukuyama type congenital muscular dystrophy (FCMD) siblings with different phenotypes. Brain Dev 19:181-186, 1997

52. Kondo-Iida E, Saito K, Tanaka H, Tsuji S, Ishihara T, Osawa M, Fukuyama Y, Toda T. Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. Hum Genet 99:427-432, 1997

53. Kotliarova SE, Matsushita I, Shinka T, Hida A, Toda T, Tokunaga K, Nakagome Y, Nakahori Y. Novel polymorphic CA repeat on the Yp11 with non-random allele distribution on sex chromosomes is a useful marker for forensic analysis. In Advances in Research on DNA Polymorphisms. Toyoshoten, Tokyo, pp108-112, 1997

54. Toda T, Miyake M, Nakahori Y, Segawa M, Nomura Y, Nonaka I, Ikegawa S, Kondo E, Saito K, Osawa M, Fukuyama Y, Yoshioka M, Shimizu T, Kanazawa I, Nakamura Y, Nakagome Y. Toward identification of the Fukuyama type congenital muscular dystrophy (FCMD) gene. In Fukuyama Y, Osawa M, Saito K (eds) Congenital Muscular Dystrophies. Elsevier, Amsterdam, pp301-308, 1997

55. Yoshioka M, Toda T, Kuroki S. The clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. In Fukuyama Y, Osawa M, Saito K (eds) Congenital Muscular Dystrophies. Elsevier, Amsterdam, pp105-117, 1997

56. Kondo E, Saito K, Toda T, Osawa M, Tanaka H, Tsuji S, Yamamoto T, Kobayashi M, Nakamura Y, Fukuyama Y. Reconfirmation of the Fukuyama congenital muscular dystrophy (FCMD) gene locus at chromosome 9q31, and a  successful prenatal diagnosis of FCMD in two families. In Fukuyama Y, Osawa M, Saito K (eds) Congenital Muscular Dystrophies. Elsevier, Amsterdam, pp309-319, 1997

57. Kurahashi H, Tsuda E, Kohama R, Nakayama T, Masuno M, Imaizumi K, Kamiya T, Sano Y, Okada S, Nishisho I. Another critical region for deletion of 22q11: A study of 100 patients. Am J Med Genet, 72:180-185, 1997

58. Takahashi Y, Fujita H, Nakamura Y, Kurahashi H. Dual-color FISH analysis of breakpoints on Robertsonian translocations. Jpn J Hum Genet, 42: 517-523, 1997.

59. Azuma T, Matsubara T, Nagai Y, Funauchi M, Fujimoto T, Saito T, Tone K, Sakoda S. Effects of antihypertensive agents on circadian blood pressure in hypertensive patients with  previous brain infarction. Journal of Human Hypertension 11: 637-640,1997

60. Takai Y, Tsutsumi O, Harada I, Fujii T, Kashima T, Kobayashi K, Toda T, Taketani Y. Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis. Hum Reprod 13:320-323, 1998

61. Saito K, Kondo-Iida E, Kawakita Y, Juan D, Ikeya K, Osawa M, Fukuyama Y, Toda T, Nakabayashi M, Yamamoto T, Kobayashi M. Prenatal diagnosis of Fukuyama type congenital muscular dystrophy in eight Japanese families by haplotype analysis using new markers closest to the gene. Am J Med Genet 77:310-316, 1998

62. Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394:388-392, 1998

63. Kobayashi K, Nakahori Y, Mizuno K, Miyake M, Kumagai T, Honma A, Nonaka I, Nakamura Y, Tokunaga K, Toda T. Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD). Hum Genet 103:323-327, 1998

64. Yoshioka M, Toda T, Kuroki S. Broader clinical spectrum of Fukuyama congenital muscular dystrophy manifested by haplotype analysis. In Perat MV (ed) New Developments in Child Neurology. Monduzzi Editore, Bologna, pp317-320, 1998

65. Watanabe M, Sugimura Y, Yoshida H, Toda T. Simple and inexpensive recovery of DNA fragments from agarose and polyacrylamide gels using a cotton-wool column tube. Showa Univ J Med Sci 10:141-148, 1998
 

66. Adachi M, Tachibana K, Masuno M, Makita Y, Maesaka H, Okada T,Hizukuri K, Imaizumi K, Kuroki Y, Kurahashi H, Suwa S. Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. Eur J Pediatr, 157: 34-38, 1998

67. Yamamoto S, Okada M, Tsujikawa M, Shimomura Y, Nishida K, Inoue Y, Watanabe H, Maeda N, Kurahashi H, Kinoshita S, Nakamura Y, Tano Y. A kerato-epithelin (big-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet, 62:719-722, 1998

68. Tsujikawa M, Shimomura Y, Okada M, Yamamoto S, Tano Y, Kurahashi H. Three polymorphisms in the big-h3 gene. J Hum Genet, 43: 214-215, 1998

69. Honda A, Ono J, Kurahashi H, Mano T, Imai K, and Okada S. Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3. Brain Dev, 20:190-192, 1998

70. Tsujikawa M, Kurahashi H, Tanaka T, Okada M, Yamamoto S, Maeda N, Watanabe H, Inoue Y, Kiridoshi A, Matsumoto K, Ohashi Y, Kinoshita S, Shimomura Y, Nakamura Y, Tano Y. Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy (GDLD) to chromosome 1p. Am J Hum Genet, 63:1073-1077, 1998

71. Kurahashi H, Sakamoto M, Ono J, Honda A, Okada S, Nakamura Y. Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17). Hum Genet, 103:189-192, 1998

72. Sakamoto M, Ono J, Okada S, Masuno M, Nakamura Y, Kurahashi H. Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly or Miller-Dieker syndrome. Hum Genet, 103: 586-589, 1998

73. Nagai Y, Azuma T, Funauchi T, Fujita M, Umi M, Hirano M, Matsubara T, Ueno S. Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6 (SCA6). Journal of the Neurological Science 157: 52-59,1998

74. Kotliarova ES, 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 71:261-275, 1999

75. Voit T, Cohn RD, Sperner J, Leube B, Sorokin L, Toda T, Herrmann R. Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation. Neuromuscul Disord 9:95-101, 1999

76. Shinka T, Tomita K, Toda T, Kotliarova SE, Lee J, Kuroki Y, Jin DK, Tokunaga K, Nakamura H, Nakahori Y. Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage. J Hum Genet 44:240-245, 1999

77. Belpaire-Dethiou M-Cl, Saito K, Fukuyama Y, Kondo-Iida E, Toda T, Duprez Th, Verellen-Dumoulin C, Van den Bergh PYK. Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient. Neuromuscul Disord 9:251-256, 1999

78. Kuroki Y, Iwamoto T, Lee J, Yoshiike M, Nozawa S, Nishida T, Ewis AA, Nakamura H, Toda T, Tokunaga K, Kotliarova SE, Kondoh N, Koh E, Namiki M, Shinka T, Nakahori Y. Spermatogenic ability is different among males in different Y chromosome lineage. J Hum Genet 44:289-292, 1999

79. Kondo-Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, Saito K, Osawa M, Nakamura Y, Toda T. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet 8:2303-2309, 1999

80. Yoshioka M, Toda T, Kuroki S, Hamano K. Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis. J Child Neurol 14:711-715, 1999

81. Toda T, Kobayashi K. Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration. J Mol Med 77:816-823, 1999

82. Tsujikawa M, Kurahashi H, Tanaka T, Nishida K, Shimomura Y, Tano Y, Nakamura Y. Identification of the gene responsible for gelatinous drop-like corneal dystrophy. Nat Genet, 21: 420-423, 1999

83. Onouchi Y, Kurahashi H, Tajiri H, Ida S, Okada S, Nakamura Y. Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome. J Hum Genet, 44: 235-239, 1999

84. Ono J, Kurahashi H, Okinaga T, Mano T, Imai K, Inui K, Okada S. Interstitial deletion of 14q, 46,XY,del(14)(q24.3;q32.1) associated with status of nonepileptic myoclonia and delayed myelination. J Child Neurol, 14: 756-758, 1999

85. Kerstjens-Frederikse WS, Kurahashi H, Driscoll DA, Budarf ML, Emanuel BS, Beatty B, Scheidl T, Siegel-Bartelt J, Henderson K, Cytrynbaum C, Nie G, and Teshima I. Microdeletion 22q11.2: clinical data and deletion size. J Med Genet, 36: 721-723, 1999

86. Akagi M, Inui K, Nishigaki T, Muramatsu T, Kokubu C, Fu L, Fukushima H, Yanagihara I, Tsukamoto H, Kurahashi H, Okada S. Mutation analysis of a Japanese patient with fucosidosis. J Hum Genet, 44: 323-326, 1999

87. Berger J, Kurahashi H, Takihara Y, Shimada K, Hugh W Brock, Randazzo F. The human homolog of Sex comb on midleg (SCMH1) maps to chromosome 1p34.Gene 237:185-191, 1999.

88. Dunham I, Shimizu N, Roe BA, Chissoe S, et al.. The DNA sequence of human chromosome 22. Nature 402: 489-495, 1999.

89. Nagai Y, Onodera O, Chun J, Strittmatter W.J, Burke J.R. Expanded polyglutamine domain proteins bind neurofilament and alter the neurofilament  network. Experimental Neurology 155: 195-203 ,1999.

90. Azuma T, Nagai Y, Saito T, Funauchi M, Matsubara T, Sakoda S. The effect of dehydroepiandrosterone sulfate administration to patients with multi-infarct  dementia. Journal of the Neurological Science 162: 69-73, 1999

91. Nagai Y, Onodera O, Strittmatter W.J., Burke J.R. Polyglutamine domain proteins with expanded repeat bind neurofilament, altering the neurofilament network.  Annals of the New York Academy of Sciences 893, 192-202 ,1999.

92. Futaki M, Yamashita T, Yagasaki H, Toda T, Yabe M, Kato S, Asano S, Nakahata T. The IVS4+4 A-T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. Blood 95:1493-1498, 2000

93. Jong YJ, Kobayashi K, Toda T, Kondo-Iida E, Huang SC, Shen YZ, Nonaka I, Fukuyama Y. Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. Neuromuscul Disord 10:108-112, 2000

94. Toda T, Kobayashi K, Kondo-Iida E, Sasaki J, Nakamura Y. The Fukuyama congenital muscular dystrophy story. Neuromuscul Disord 10:153-159, 2000

95. Toda T, Kobayashi K, Nonaka I. Congenital muscular dystrophies with special reference to the Fukuyama type. Neurosci News 3:39-45, 2000

96. Saito K, Osawa M, Wang Z-P, Ikeya K, Fukuyama Y, Kondo-Iida E, Toda T, Ohashi H, Kurosawa K, Wakai S, Kaneko K. Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. Am J Med Genet 92:184-190, 2000

97. Chadani Y, Kondoh T, Kamimura N, Matsumoto T, Matsuzaka T, Kobayashi O, Kondo-Iida E, Kobayashi K, Nonaka I, Toda T. Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy. J Neurol Sci 177:150-153, 2000

98. Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C,  Brockington M, Brown SC, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F. Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. Neuromuscul Disord 10:541-547, 2000

99. Asano Y, Minagawa K, Okuda A, Matsui T, Ando K, Kondo-Iida E, Kobayashi O, Toda T, Nonaka I, Tanizawa T. A case of Walker-Warburg syndrome. Brain Dev 22:454-457, 2000

100. Sasaki J, Ishikawa K, Kobayashi K, Kondo-Iida E, Fukayama M, Mizusawa H, Takashima S, Sakakihara Y, Nakamura Y, Toda T. Neuronal expression of the fukutin gene. Hum Mol Genet 9:3083-3090, 2000

101. Colombo R, Bignamini AA, Carobene A, Sasaki J, Tachikawa M, Kobayashi K, Toda T. Age and origin of the FCMD 3｢-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in Japanese population. Hum Genet 107:559-567, 2000

102. Kurahashi H, Shaikh TH, Saitta SC, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis. Hum Mol Genet 9: 489-501, 2000.

103. Yanagihara I, Yamagata M, Sakai N, Shukunami C, Kurahashi H, Yamazaki M, Michigami T, Hiraki Y, Ozono K. Genomic organization of the human chondromodulin-1 gene containing a promoter region which confers the expression of reproter gene in condrogenic ATDC5 cells. J Bone Miner Res, 15: 421-429, 2000.

104. Sakamoto M, Ono J, Okada S, Nakamura Y, Kurahashi H. Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence. J Hum Genet, 45: 167-170, 2000

105. Yamanaka S, Tanaka Y, Kawataki M, Ijiri R, Imaizumi K, Kurahashi H. Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant. Arch Pathol Lab Med, 124: 880-882, 2000

106. Kurahashi H, Shaikh TH, Hu P, Roe BA, Emanuel BS, Budarf ML. Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum Mol Genet, 9: 1665-1670, 2000.

107. Ohta H, Tokimasa H, Zou Z, Funaki S, Kurahashi H, Takahashi Y, Kimura M, Matsuoka R, Horie M, Hara J, Shimada K, Takihara Y. Structure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene. DNA Seq, 11: 61-73, 2000.

108. Kurahashi H, Shaikh TH, Zackai EH, Celle L, Driscoll DA, Budarf ML, Emanuel BS. Tightly clustered 11q23 and 22q11 breakpoints permit PCR based detection of the recurrent constitutional t(11;22). Am J Hum Genet, 67: 763-768, 2000.

109. Tamagaki A, Shima M, Tomita R, Okumura M, Shibata M, Morichika S, Kurahashi H, Giddings JC, Yoshioka A, Yokobayashi Y. Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2. Am J Med Genet, 94: 5-8, 2000.

110. Matsumura K, Iritani A, Enomoto S, Torikata C, Matsuyama S, Kurita A, Kurahashi H, Tsuchida N. Defining a common region of DNA amplification at 22q11.2-12 in head and neck squamous cell carcinomas by quantitative FISH analysis. Genes Chromosomes Cancer, 29: 207-212, 2000

111. Kurahashi H, Shaikh TH, Emanuel BS. Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint. Hum Mol Genet, 9, 2727-2732, 2000

112.  Nagai Y, Tucker T, Ren H, Kenan D.J, Henderson B.S, Keene J.D, Strittmatter W.J, Burke J.R. Inhibition of polyglutamine protein aggregation and cell death by novel peptides identified by phage display screening. The Journal of Biological Chemistry 275, 10437-10442 ,2000.

113. Kobayashi K, Sasaki J (eaqually contributed), Kondo-Iida E, Fukuda Y, Kinoshita M, Sunada Y, Nakamura Y, Toda T. Structural organization, complete genomic sequences, and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. FEBS Lett 489:192-196, 2001

114. Togo M, Toda T, Nguyen LA, Kubota S, Tsukamoto K, Satoh H, Hara M, Iso-o N, Noto H, Kimura S, Nakahara K, Seyama Y, Hashimoto Y. Genetic analysis of phytosterolaemia. J Inherit Metab Dis 24:43-50, 2001

115. Tran TD, Kroepfl T, Saito M, Nagura M, Ichiseki H, Kubota M, Toda T, Sakakihara Y. The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy. Brain Dev 23:321-326, 2001

116. Toda T, Sasaki J, Tachikawa M, Kano H, Kobayashi K. Molecular genetics of Fukuyama CMD and fukutin. Acta Myologica 20:92-95, 2001

117. Yoshida A, Kobayashi K (eaqually contributed), Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T (equally contributed), Endo T. Muscular dystrophy and neuronal migration disorder caused by mutations in a novel glycosyltransferase, POMGnT1. Dev Cell 1:717-724, 2001

118. Shaikh TH, Kurahashi H, Emanuel BS. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review. Genet Med, 3: 6-13, 2001

119. Yanagihara I, Inui K, Yanagihara K, Park YD, Tanaka J, Ozono K, Okada S, Kurahashi H. Fluorescence in situ hybridization analysis of peripheral blood cells Pearson marrow-pancreas syndrome. J Pediatr 139: 452-455, 2001

120. Kurahashi H, Emanuel BS. Unexpectedly high rate of de novo constitutional t(11;22)s in sperm from normal males. Nat Genet 29: 139-140, 2001

121.  Kurahashi H, Emanuel BS. Long AT rich palindromes and the constitutional t(11;22) Breakpoint. Hum Mol Genet 10: 2605-2617, 2001

122.  Ren H, Nagai Y, Tucker T, Strittmatter W.J, Burke J.R. Amino acid sequence requirements of peptides that inhibit polyglutamine-protein aggregation and cell death. Biochemical Biophysical Research Communications 288: 703-710 ,2001

123. Yoshioka M, Kuroki S, Sasaki H, Baba K, Toda T. A variant of congenital muscular dystrophy. Brain Dev 24:24-29, 2002

124. Momose Y, Murata M, Kobayashi K, Tachikawa M, Nakabayashi Y, Kanazawa I, Toda T. Association studies of multiple candidate genes for Parkinson’s disease using single nucleotide polymorphisms. Ann Neurol 51:133-136, 2002

125. Chiyonobu T, Yoshihara T, Fukushima Y, Yamamoto Y, Tsunamoto K, Nishimura Y, Ishida H, Toda T, Kasabuchi Y. Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. Am J Med Genet 109:61-66, 2002

126. Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talim B, Voit T, Topaloglu H, Endo T, Yoshikawa H, Toda T. Deficiency of a-dystroglycan in muscle-eye-brain disease. Biochem Biophys Res Commun 291:1283-1286, 2002

127. Ono J, Imai K, Tanaka-Taya K, Kurahashi H, Okada S. Decreased frequency of seizures in infantile spasms associated with lissencephaly by human herpes virus 7 infection. Pediatr Int 44, 168-70, 2002

128. Zanoteli E, Rocha JCC, Narumia LK, Fireman MAT, Moura LS, Oliveira ASB, Gabbai AA, Fukuda Y, Kinoshita M, Toda T. Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil. Acta Neurol Scand 109: 117-121, 2002

129. Tachikawa M, Nagai Y, Nakamura K, Kobayashi K, Fujiwara T, Han H-J, 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 other neurodegenerative diseases. J Hum Genet, 47: 275-278, 2002

130. Azuma T, Uemichi T, Funauchi M, Nagai Y, Matsubara T. Ambulatory blood pressure monitoring in patients with spinocerebellar degeneration. Acta Neurologica Scandinavica 106:213-217,2002

131. Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet 12:527-534, 2003

132. Horie M, Kobayashi K (eaqually contributed), Takeda S, Nakamura Y, Lyons GE, Toda T. Isolation and characterization of the murine orthologue of the Fukuyama-type congenital muscular dystrophy gene, fukutin. Genomics 80: 482-486, 2002

133. Silan F, Yoshioka M, Kobayashi K, Simsek E, Tunc M, Alper M, Cam M, Guven A, Fukuda Y, Kinoshita M, Kocabay K, Toda T. The first case with Fukuyama-type congenital muscular dystrophy in non-Japanese population carrying a novel fukutin mutation and Walker-Warburg syndrome-like phenotype. Ann Neurol 53: 392-396, 2003

134. Kurahashi H, Shaikh T, Takata M, Toda T, Emanuel BS. The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats. Am J Hum Genet 72:733-738, 2003

135. Noguchi S, Tsukahara T, Fujita M, Kurokawa R, Tachikawa M, Toda T, Tsujimoto A, Arahata K, Nishino I. cDNA microarray analysis of individual Duchenne muscular dystrophy patients. Hum Mol Genet 12:595-600, 2003

136. Li M, Ishikawa K, Toru S, Tomomotsu 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 ataxia (ADCA) type III in Japan. J Hum Genet 48:111-118, 2003

137. Nagai Y, Fujikake N, Ohno K, Higashiyama H, Popiel H A, Rahadian J, Inui T, Urade Y, Yamaguchi M, Strittmatter WJ, Burke JR, Toda T. Rescue of polyglutamine-induced neurological phenotypes by the peptide inhibitor QBP1 in drosophila disease models. Hum Mol Genet 12:1253-1259, 2003

138. Takeda S, Kondo M, Sasaki J, Kurahashi H, Kano H, Arai K, Misaki K, Fukui T, Kobayashi K, Tachikawa M, Imamura M, Nakamura Y, Shimizu T, Murakami T, Sunada Y, Fujikado T, Matsumura K, Terashima T, Toda T. Fukutin is required for maintenance of muscle integrity, cortical histiogenesis, and normal eye development. Hum Mol Genet 12:1449-1459, 2003

139. Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, Endo E. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. Biochem Biophys Res Commun 306:93-97, 2003

140. Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K. Fukuyama-type congenital muscular dystrophy (FCMD) and a-dystroglycanopathy. Congenit Anom 43:97-104, 2003

141. Toda T, Momose Y, Murata M, Tamiya G, Yamamoto M, Hattori N, Inoko H. Toward identification of susceptibility genes for sporadic Parkinson’s disease. J Neurol 250(supple3):40-43, 2003

142. Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K. Fukuyama-type congenital muscular dystrophy and abnormal glycosylation of a-dystroglycan. Basic Appl Myol 13:287-292, 2003

143. Zhang W, Vajsar J, Cao P, Breningstall G, Diesen C, Dobyns W, Herrmann R, Lehesjoki A-E, Steinbrecher A, Talim B, Toda T, Topaloglu H, Voit T, Schachter H. Enzymatic diagnostic test for Muscle-Eye-Brain type Congenital Muscular Dystrophy using commercially available reagents. Clin Biochem 36:339-344, 2003

144. Maraganore DM, Lesnick TG, Elbaz A, Chartier-Harlin M-C, Gasser T, Kruger R, Hattori N, Mellick GD, Quattrone A, Satoh J, Toda T, Wang J, Ioannidis JPA, de Andrade M, Rocca WA, the UCHL1 Global Genetics Consortium. UCHL1 is a Parkinsonﾕs disease susceptibility gene. Ann Neurol 55:512-521, 2004

145. Popiel HA, Nagai Y, Onodera O, Inui T, Fujikake N, Urade Y, Strittmatter WJ, Burke JR, Ichikawa A, Toda T. Disruption of the toxic conformation of the expanded polyglutamine stretch leads to suppression of aggregate formation and cytotoxicity. Biochem Biophys Res Commun 317:1200-1206, 2004

146. Akasaka-Manya K, Manya H, Kobayashi K, Toda T, Endo T. Structure-function analysis of human protein O-linked mannose b1,2-N-acetylglucosaminyltransferase 1, POMGnT1. Biochem Biophys Res Commun 320:39-44, 2004

147. Longman C, Mercuri E, Cowan F, Allsop J, Brockington M, Jimenez-Mallebrera C, Kumar S, Rutherford M, Toda T, Muntoni F. Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. Arch Neurol 61:1301-1306, 2004

148. Kurahashi H, Inagaki H, Yamada K, Ohye T, Taniguchi M, Emanuel BS, Toda T. Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations. J Biol Chem 279:35377-35383, 2004

149. Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N. Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 56:424-427, 2004

150. Ohtake H, Limprasert P, Fan Y, Onodera O, Kakita A, Takahashi H, Bonner LT, Tsuang DW, Murray IV, Lee VM, Trojanowski JQ, Ishikawa A, Idezuka J, Murata M, Toda T, Bird TD, Leverenz JB, Tsuji S, La Spada AR. b-synuclein gene alterations in dementia with Lewy bodies. Neurology 63:805-811, 2004

151. Hatano Y, Sato K, Eibol B, Yoshino H, Yamamura Y, Bonifati V, Shinotoh H, Asahina M, Kobayashi S, Ng AR, Rosales RL, Hassin-Baer S, Shinar Y, Lu CS, Chang HC, Wu-Chou YH, Atac FB, Kobayashi T, Toda T, Mizuno Y, Hattori N. PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations. Neurology 63:1482-1485, 2004

152. Kariya S, Hirano M, Nagai Y, Furiya Y, Fujikake N, Toda T, Ueno S. Humanin attenuates apoptosis induced by DRPLA proteins with expanded polyglutamine stretches. J Mol Neurosci 25:165-170, 2005

153. Kurahashi H, Taniguchi M, Meno C, Taniguchi Y, Takeda S, Horie M, Otani H, Toda T. Basement membrane fragility underlies embryonic lethality in fukutin-null mice. Neurobiol Dis 19:208-217, 2005

154. Chiyonobu T, Sasaki J, Nagai Y, Takeda S, Funakoshi H, Nakamura T, Sugimoto T, Toda T. Effects of fukutin deficiency in the developing mouse brain. Neuromuscul Disord 15:416-426, 2005

155. Li Y, Tomiyama H, Sato K, Hatano Y, Yoshino H, Atsumi M, Kitaguchi M, Sasaki S, Kawaguchi S, Miyajima H, Toda T, Mizuno Y, Hattori N. Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. Neurology 64:1955-1957, 2005

156. Sasaki N, Manya H, Okubo R, Kobayashi K, Ishida H, Toda T, Endo T, Nishihara S. b4GalT-II is a key regulator of glycosylation of the proteins involved in neuronal development. Biochem Biophys Res Commun 333:131-137, 2005

157. Fujikake N, Nagai Y, Popiel HA, Kano H, Yamaguchi M, Toda T. Alternative splicing regulates the transcriptional activity of Drosophila heat shock transcription factor in response to heat/cold stress. FEBS lett 579:3842-3848, 2005

158. IIshikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H. An autosomal dominant cerebellar ataxia linked to chomosome 16q22.1 is associated with a single-nucleotide substitution in the 5ｫ untranslated region of the gene encoding a novel protein with spectrin repeat and rho Guanine-nucleotide exchange-factor domains. Am J Hum Genet 77:280-296, 2005

159.Watanabe M, Kobayashi K, Jin F, Park KS, Yamada T, Tokunaga K, Toda T. Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations. Am J Med Genet 138:344-348, 2005

160. Kano H, Kurosawa K, Horii E, Ikegawa S, Yoshikawa H, Kurahashi H, Toda T. Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. Hum Genet 118:477-483, 2005

161.Saito Y, Motoyoshi Y, Kashima K, Izumiyama-Shimomura N, Toda T, Nakano I, Hasegawa M, Murayama S. Unique tauopathy in Fukuyama-type congenital muscular dystrophy. J Neuropath Exp Neurol 64:1118-1126, 2005

162.Toda T, Chiyonobu T, Xiong H, Tachikawa M, Kobayashi K, Manya H, Takeda S, Taniguchi M, Kurahashi H, EndoT. Fukutin and a-dystroglycanopahties. Acta Myologica 24:60-63, 2005

163. Kariya S, Hirano M, Uesato S, Nagai Y, Nagaoka Y, Furiya Y, Asai H, Fujikake N, Toda T, Ueno S. Cytoprotective effect of novel histone deacetylase inhibitors against polyglutamine toxicity. Neurosci Lett 392:213-215, 2006

164.Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K, Murata M, Toda T, Imoto I, Inazawa J, Mizuno Y, Hattori N. Clinical heterogeneity of a-synuclein gene duplication in Parkinson's disease. Ann Neurol 59:298-309, 2006

165.Mizuta I, Satake W, Nakabayashi Y, Ito C, Suzuki S, Momose Y, Nagai Y, Oka A, Inoko H, Fukae J, Saito Y, Sawabe M, Murayama S, Yamamoto M, Hattori N, Murata M, Toda T. Multiple candidate gene analysis identifies a-synuclein as a susceptibility gene for sporadic Parkinsonﾕs disease. Hum Mol Genet 15:1151-1158, 2006

166.Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T. Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-a2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? Biochem Biophys Res Commun 342:489-502, 2006

167.Taniguchi M, Kurahashi H, Noguchi S, Fukudome T, Okinaga T, Tsukahara T, Tajima Y, Ozono K, Nishino I, Nonaka I, Toda T. Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in a-dystroglycanopathies. Hum Mol Genet 15:1279-1289, 2006

168.Hino-Fukuyo N, Haginoya K, Hayashi YK, Nishino I, Murakami T, Nonaka I, Togashi K, Tanaka S, Takayanagi M, Yokoyama H, Sakamoto O, Abe T, Toda T, Iinuma K. A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit. Neuromuscul Disord 16:274-276, 2006

169.Tomiyama H, Li Y, Funayama M, Hasegawa K, Yoshino H, Kubo S, Sato K, Hattori T, Lu CS, Inzelberg R, Djaldetti R, Melamed E, Amouri R, Gouider-Khouja N, Hentati F, Hatano Y, Wang M, Imamichi Y, Mizoguchi K, Miyajima H, Obata F, Toda T, Farrer MJ, Mizuno Y, Hattori N. Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries. Mov Disord 21:1102-1108, 2006

170.Mori T, Kurahashi H, Shinka T, Nakahori Y, Taniguchi M, Toda T, Iwamoto T. Candidate genes for male factor infertility-validation. Fertil Steril 86:1553-1554, 2006

171.Kanagawa M, Toda T. The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis. J Hum Genet 51:915-927, 2006

172.Xiong H, Kobayashi K, Tachikawa M, Manya H, Takeda S, Chiyonobu T, Fujikake N, Wang F, Nishimoto A, Morris GE, Nagai Y, Kanagawa M, Endo T, Toda T. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of a-dystroglycan. Biochem Biophys Res Commun 350:935-941, 2006

173.Funayama M, Li Y, Tomiyama H, Yoshino H, Imamichi Y, Yamamoto M, Murata M, Toda T, Mizuno Y, Hattori N. LRRK2 G2385R variant is a risk factor for parkinson disease in Asian population. Neuroreport 18:273-275, 2007

174.Popiel HA, Nagai Y, Fujikake N, Toda T. Protein transduction domain-mediated delivery of QBP1 suppresses polyglutamine-induced neurodegeneration in vivo. Mol Ther 15:303-309, 2007

175.Saito F, Masaki T, Saito Y, Nakamura A, Takeda S, Shimizu T, Toda T, Matsumura K. Defective peripheral nerve myelination and neuromuscular junction formation in fukutin-deficient chimeric mouse. J Neurochem 101:1712-1722, 2007

176.Nagai Y, Inui T, Popiel HA, Fujikake N, Hasegawa K, Urade Y, Goto Y, Naiki H, Toda T. A toxic monomeric conformer of the polyglutamine protein. Nat Struct Mol Biol 14:332-340, 2007

177.Satake W, Mizuta I, Suzuki S, Nakabayashi Y, Ito C, Watanabe M, Takeda A, Hasegawa K, Sakoda S, Yamamoto M, Hattori N, Murata M, Toda T. Fibroblast growth factor 20 gene and Parkinson's disease in the Japanese population. Neuroreport 18:937-940, 2007

178.Chiyonobu T, Hayashi S, Kobayashi K, Morimoto M, Miyanomae Y, Nishimura A, Nishimoto A, Ito C, Imoto I, Sugimoto T, Jia Z, Inazawa J, Toda T. Partial tandem duplication of GRIA3 in a male with mental retardation. Am J Med Genet 143:1448-1455, 2007

179.Amino T, Ishikawa K, Toru S, Ishiguro T, Sato N, Tsunemi T, Murata M, Kobayashi K, Inazawa J, Toda T, Mizusawa H. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. J Hum Genet 52:643-649, 2007

180.Takahashi Y, Okamoto Y, Popiel HA, Fujikake N, Toda T, Kinjo M, Nagai Y. Detection of polyglutamine protein oligomers in cells by fluorescence correlation spectroscopy. J Biol Chem 282:24039-24048, 2007

181.Yoshioka M, Higuchi Y, Fujii T, Aiba H, Toda T. Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. Brain Dev (in press)

182.Kanagawa M, Toda T. Fukutin and Fukuyama congenital muscular dystrophy. Glycoscience Lab Manual (in press)

183.Kano H, Kurahashi H, Toda T. Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype. Proc Natl Acad Sci USA (in press)