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Primary collagen Vi deficiency is the second most common congenital muscular dystrophy in JapanOKADA, M; KAWAHARA, G; NOGUCHI, S et al.Neurology. 2007, Vol 69, Num 10, pp 1035-1042, issn 0028-3878, 8 p.Article

POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in α-DGKIM, D.-S; HAYASHI, Y. K; NONAKA, I et al.Neurology. 2004, Vol 62, Num 6, pp 1009-1011, issn 0028-3878, 3 p.Article

Fukutin-related protein gene mutated in the original kindred limb-girdle MD 21DRISS, A; NOGUCHI, S; KUDOH, J et al.Neurology. 2003, Vol 60, Num 8, pp 1341-1344, issn 0028-3878, 4 p.Article

Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich diseaseKAWAHARA, G; OKADA, M; MORONE, N et al.Neurology. 2007, Vol 69, Num 10, pp 1043-1049, issn 0028-3878, 7 p.Article

Deficiency of laminin α2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophyHAYASHI, Y. K; KOGA, R; TSUKAHARA, T et al.Muscle & nerve. 1995, Vol 18, Num 9, pp 1027-1030, issn 0148-639XConference Paper

Abnormal localization of laminin subunits in muscular dystrophiesHAYASHI, Y. K; ENGVALL, E; ARIKAWA-HIRASAWA, E et al.Journal of the neurological sciences. 1993, Vol 119, Num 1, pp 53-64, issn 0022-510XArticle

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutationSATO, I; WU, S; IBARRA M, C. A et al.Neurology. 2008, Vol 70, Num 2, pp 114-122, issn 0028-3878, 9 p.Article

Mutation in the caveolin-3 gene causes a peculiar form of distal myopathyTATEYAMA, M; AOKI, M; IINUMA, K et al.Neurology. 2002, Vol 58, Num 2, pp 323-325, issn 0028-3878Article

Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophyHAYASHI, Y. K; OGAWA, M; TAGAWA, K et al.Neurology. 2001, Vol 57, Num 1, pp 115-121, issn 0028-3878Article

A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptomKINOSHITA, H; GOTO, Y.-I; ISHIKAWA, M et al.Brain & development (Tokyo. 1979). 1995, Vol 17, Num 3, pp 202-205, issn 0387-7604Article

A new congenital form of X-linked autophagic vacuolar myopathyYAN, C; TANAKA, M; NISHINO, I et al.Neurology. 2005, Vol 65, Num 7, pp 1132-1134, issn 0028-3878, 3 p.Article

Ullrich disease due to deficiency of collagen VI in the sarcolemmaISHIKAWA, H; SUGIE, K; MURAYAMA, K et al.Neurology. 2004, Vol 62, Num 4, pp 620-623, issn 0028-3878, 4 p.Article

Mutations in the integrin α7 gene cause congenital myopathyHAYASHI, Y. K; CHOU, F.-L; OZAWA, E et al.Nature genetics. 1998, Vol 19, Num 1, pp 94-97, issn 1061-4036Article

The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan : imunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophinHAYASHI, Y. K; MIZUNO, Y; YOSHIDA, M et al.Neurology. 1995, Vol 45, Num 3, pp 551-554, issn 0028-3878, 1Article

NOVEL FHL1 MUTATIONS IN FATAL AND BENIGN REDUCING BODY MYOPATHYSHALABY, S; HAYASHI, Y. K; NONAKA, I et al.Neurology. 2009, Vol 72, Num 4, pp 375-376, issn 0028-3878, 2 p.Article

Tongue atrophy in facioscapulohumeral muscular dystrophyYAMANAKA, G; GOTO, K; MATSUMURA, T et al.Neurology. 2001, Vol 57, Num 4, pp 733-735, issn 0028-3878Article

Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathyMATSUDA, C; AOKI, M; HAYASHI, Y. K et al.Neurology. 1999, Vol 53, Num 5, pp 1119-1122, issn 0028-3878Article

A benign allelic form of laminin α2 chain deficient muscular dystrophyHAYASHI, Y. K; ISHIHARA, T; DOMEN, K et al.Lancet (British edition). 1997, Vol 349, Num 9059, issn 0140-6736, p. 1147Article

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophyNAGANO, A; KOGA, R; OGAWA, M et al.Nature genetics. 1996, Vol 12, Num 3, pp 254-259, issn 1061-4036Article

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