Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease von KAWAHARA, G, OKADA, M, MORONE, N, IBARRA, C. A, NONAKA, I, NOGUCHI, S, HAYASHI, Y. K, NISHINO, I

Volltext

Primary collagen Vi deficiency is the second most common congenital muscular dystrophy in Japan von OKADA, M, KAWAHARA, G, NOGUCHI, S, SUGIE, K, MURAYAMA, K, NONAKA, I, HAYASHI, Y. K, NISHINO, I

Volltext

Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy von Cortese, A., Laurà, M., Casali, C., Nishino, I., Hayashi, Y. K., Magri, S., Taroni, F., Stuani, C., Saveri, P., Moggio, M., Ripolone, M., Prelle, A., Pisciotta, C., Sagnelli, A., Pichiecchio, A., Reilly, M. M., Buratti, E., Pareyson, D.

Volltext

NOVEL FHL1 MUTATIONS IN FATAL AND BENIGN REDUCING BODY MYOPATHY von SHALABY, S, HAYASHI, Y. K, NONAKA, I, NOGUCHI, S, NISHINO, I

Volltext

Ullrich disease due to deficiency of collagen VI in the sarcolemma von ISHIKAWA, H, SUGIE, K, MURAYAMA, K, AWAYA, A, SUZUKI, Y, NOGUCHI, S, HAYASHI, Y. K, NONAKA, I, NISHINO, I

Volltext

Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy von HAYASHI, Y. K, OGAWA, M, TAGAWA, K, NOGUCHI, S, ISHIHARA, T, NONAKA, I, ARAHATA, K

Volltext

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation von SATO, I, WU, S, IBARRA M, C. A, HAYASHI, Y. K, FUJITA, H, TOJO, M, OH, S. J, NONAKA, I, NOGUCHI, S, NISHINO, I

Volltext

Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy von TATEYAMA, M, AOKI, M, IINUMA, K, NONAKA, I, ARAHATA, K, ITOYOMA, Y, NISHINO, I, HAYASHI, Y. K, SEKIGUCHI, S, SHIGA, Y, TAKAHASHI, T, ONODERA, Y, HAGINOYA, K, KOBAYASHI, K

Volltext

POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in α-DG von KIM, D.-S, HAYASHI, Y. K, NONAKA, I, NISHINO, I, MATSUMOTO, H, OGAWA, M, NOGUCHI, S, MURAKAMI, N, SAKUTA, R, MOCHIZUKI, M, MICHELE, D. E, CAMPBELL, K. P

Volltext

A new congenital form of X-linked autophagic vacuolar myopathy von YAN, C, TANAKA, M, NISHINO, I, SUGIE, K, NOBUTOKI, T, WOO, M, MURASE, N, HIGUCHI, Y, NOGUCHI, S, NONAKA, I, HAYASHI, Y. K

Volltext

Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy von MATSUDA, C, AOKI, M, HAYASHI, Y. K, HO, M. F, ARAHATA, K, BROWN, R. H

Volltext

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy von NAGANO, A, KOGA, R, OGAWA, M, KURANO, Y, KAWADA, J, OKADA, R, HAYASHI, Y. K, TSUKAHARA, T, ARAHATA, K

Volltext

Tongue atrophy in facioscapulohumeral muscular dystrophy von YAMANAKA, G, GOTO, K, MATSUMURA, T, FUNAKOSHI, M, KOMORI, T, HAYASHI, Y. K, ARAHATA, K

Volltext

Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy von Yonekawa, Takahiro, Komaki, Hirofumi, Okada, Mari, Hayashi, Yukiko K, Nonaka, Ikuya, Sugai, Kenji, Sasaki, Masayuki, Nishino, Ichizo

Volltext

Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A von Goto, K, Nishino, I, Hayashi, Y K

Volltext

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy von Kawabe, K., Goto, K., Nishino, I., Angelini, C., Hayashi, Y. K.

Volltext

Molecular dynamics simulation of myopathy-related mutant FHL1 in water and analysis of structure stabilization von Takeuchi, H., Okajima, H., Itoga, H., Nobuoka, K., Yamada, H., Miyakawa, T., Morikawa, R., Hayashi, Y. K., Takasu, M.

Volltext

Characterization of the Asian myopathy patients with VCP mutations von Shi, Z., Hayashi, Y. K., Mitsuhashi, S., Goto, K., Kaneda, D., Choi, Y.-C., Toyoda, C., Hieda, S., Kamiyama, T., Sato, H., Wada, M., Noguchi, S., Nonaka, I., Nishino, I.

Volltext

Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: A case report von Motoki, T, Fukuda, M, Nakano, T, Matsukage, S, Fukui, A, Akiyoshi, S, Hayashi, Y.K, Ishii, E, Nishino, I

Volltext

Body Composition, Muscle Strength, and Physical Function of Patients with Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy von Cocchi, Daniela, Pellegrini, Massimo, Faldini, Cesare, Orsini, Riccardo, Nervuti, Giuliana, Ripamonti, Claudio, Bruno, Francesca, Miscione, Maria Teresa, Merlini, Luciano

Volltext