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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 | 952 | 1998 |
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 | 880 | 2013 |
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 | 858 | 2001 |
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 | 320 | 2009 |
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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 | 234 | 2016 |
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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 | 193 | 1999 |
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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 | 152 | 2005 |
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