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Kazuhiro Kobayashi
Kazuhiro Kobayashi
Division of Molecular Brain Science, Kobe University Graduate School of Medicine
在 med.kobe-u.ac.jp 的电子邮件经过验证
标题
引用次数
引用次数
年份
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
P Szatmari, AD Paterson, L Zwaigenbaum, W Roberts, J Brian, XQ Liu, ...
Nature genetics 39 (3), 319-328, 2007
1654*2007
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
K Kobayashi, Y Nakahori, M Miyake, K Matsumura, E Kondo-Iida, ...
Nature 394 (6691), 388-392, 1998
9521998
Modeling Alzheimer’s disease with iPSCs reveals stress phenotypes associated with intracellular Aβ and differential drug responsiveness
T Kondo, M Asai, K Tsukita, Y Kutoku, Y Ohsawa, Y Sunada, K Imamura, ...
Cell stem cell 12 (4), 487-496, 2013
8802013
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
A Yoshida, K Kobayashi, H Manya, K Taniguchi, H Kano, M Mizuno, ...
Developmental cell 1 (5), 717-724, 2001
8582001
Spinocerebellar ataxia type 31 is associated with “inserted” penta-nucleotide repeats containing (TGGAA) n
N Sato, T Amino, K Kobayashi, S Asakawa, T Ishiguro, T Tsunemi, ...
The American Journal of Human Genetics 85 (5), 544-557, 2009
3202009
Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation
S Sato, Y Omori, K Katoh, M Kondo, M Kanagawa, K Miyata, K Funabiki, ...
Nature neuroscience 11 (8), 923-931, 2008
2952008
Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms
Y Momose, M Murata, K Kobayashi, M Tachikawa, Y Nakabayashi, ...
Annals of Neurology: Official Journal of the American Neurological …, 2002
2482002
Identification of a post-translational modification with ribitol-phosphate and its defect in muscular dystrophy
M Kanagawa, K Kobayashi, M Tajiri, H Manya, A Kuga, Y Yamaguchi, ...
Cell reports 14 (9), 2209-2223, 2016
2342016
PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis
K Kobayashi, K Mlzuno, A Hida, R Komakl, K Tomita, I Matsushita, ...
Human Molecular Genetics 3 (11), 1965-1967, 1994
2111994
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy
M Taniguchi-Ikeda, K Kobayashi, M Kanagawa, C Yu, K Mori, T Oda, ...
Nature 478 (7367), 127-131, 2011
2002011
Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)
E Kondo-Iida, K Kobayashi, M Watanabe, J Sasaki, T Kumagai, H Koide, ...
Human molecular genetics 8 (12), 2303-2309, 1999
1931999
Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease
K Taniguchi, K Kobayashi, K Saito, H Yamanouchi, A Ohnuma, ...
Human molecular genetics 12 (5), 527-534, 2003
1692003
An autosomal dominant cerebellar ataxia linked to chromosome 16q22. 1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a …
K Ishikawa, S Toru, T Tsunemi, M Li, K Kobayashi, T Yokota, T Amino, ...
The American Journal of Human Genetics 77 (2), 280-296, 2005
1522005
Deficiency of α-dystroglycan in muscle–eye–brain disease
H Kano, K Kobayashi, R Herrmann, M Tachikawa, H Manya, I Nishino, ...
Biochemical and biophysical research communications 291 (5), 1283-1286, 2002
1372002
Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development
S Takeda, M Kondo, J Sasaki, H Kurahashi, H Kano, K Arai, K Misaki, ...
Human molecular genetics 12 (12), 1449-1459, 2003
1322003
A new mutation of the fukutin gene in a non‐Japanese patient
F Silan, M Yoshioka, K Kobayashi, E Simsek, M Tunc, M Alper, M Cam, ...
Annals of Neurology: Official Journal of the American Neurological …, 2003
1222003
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle–eye–brain disease
H Manya, K Sakai, K Kobayashi, K Taniguchi, M Kawakita, T Toda, ...
Biochemical and biophysical research communications 306 (1), 93-97, 2003
1112003
The Fukuyama congenital muscular dystrophy story
T Toda, K Kobayashi, E Kondo-Iida, J Sasaki, Y Nakamura
Neuromuscular Disorders 10 (3), 153-159, 2000
1112000
The Y chromosome region essential for spermatogenesis
Y Nakahori, Y Kuroki, R Komaki, N Kondoh, M Namiki, T Iwamoto, T Toda, ...
Hormone Research in Paediatrics 46 (Suppl. 1), 20-23, 1996
110*1996
MET and autism susceptibility: family and case–control studies
I Sousa, TG Clark, C Toma, K Kobayashi, M Choma, R Holt, NH Sykes, ...
European Journal of Human Genetics 17 (6), 749-758, 2009
1092009
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