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Results: 1-10 |
Results: 10
Phenotypes of X-linked Charcot-Marie-Tooth disease and altered traffickingof mutant Connexin 32 (GJB1)
Authors: Matsuyama, W Nakagawa, M Moritoyo, T Takashima, H Umehara, F Hirata, K Suehara, M Osame, M
Citation: W. Matsuyama et al., Phenotypes of X-linked Charcot-Marie-Tooth disease and altered traffickingof mutant Connexin 32 (GJB1), J HUM GENET, 46(6), 2001, pp. 307-313
Frameshift mutation in the collagen VI gene causes Ullrich's disease
Authors: Higuchi, I Shiraishi, T Hashiguchi, T Suehara, M Niiyama, T Nakagawa, M Arimura, K Maruyama, I Osame, M
Citation: I. Higuchi et al., Frameshift mutation in the collagen VI gene causes Ullrich's disease, ANN NEUROL, 50(2), 2001, pp. 261-265
Collagen VI deficiency in Ullrich's disease
Authors: Higuchi, I Suehara, M Iwaki, H Nakagawa, M Arimura, K Osame, M
Citation: I. Higuchi et al., Collagen VI deficiency in Ullrich's disease, ANN NEUROL, 49(4), 2001, pp. 544-544
Phenotypic variation in a large Japanese family with Miyoshi myopathy withnonsense mutation in exon 19 of dysferlin gene
Authors: Nakagawa, M Matsuzaki, T Suehara, M Kanzato, N Takashima, H Higuchi, I Matsumura, T Goto, K Arahata, K Osame, M
Citation: M. Nakagawa et al., Phenotypic variation in a large Japanese family with Miyoshi myopathy withnonsense mutation in exon 19 of dysferlin gene, J NEUR SCI, 184(1), 2001, pp. 15-19
Histopathological analysis of four autopsy cases of HTLV-I-associated myelopathy/tropical spastic paraparesis: inflammatory changes occur simultaneously in the entire central nervous system
Authors: Aye, MM Matsuoka, E Moritoyo, T Umehara, F Suehara, M Hokezu, Y Yamanaka, H Isashiki, Y Osame, M Izumo, S
Citation: Mm. Aye et al., Histopathological analysis of four autopsy cases of HTLV-I-associated myelopathy/tropical spastic paraparesis: inflammatory changes occur simultaneously in the entire central nervous system, ACT NEUROP, 100(3), 2000, pp. 245-252
Germline mosaicism of MPZ Gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis
Authors: Takashima, H Nakagawa, M Kanzaki, A Yawata, Y Horikiri, T Matsuzaki, T Suehara, M Izumo, S Osame, M
Citation: H. Takashima et al., Germline mosaicism of MPZ Gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis, NEUROMUSC D, 9(4), 1999, pp. 232-238
Lambert-Eaton myasthenic syndrome with ophthalmoparesis and pseudoblepharospasm
Authors: Kanzato, N Motomura, M Suehara, M Arimura, K
Citation: N. Kanzato et al., Lambert-Eaton myasthenic syndrome with ophthalmoparesis and pseudoblepharospasm, MUSCLE NERV, 22(12), 1999, pp. 1727-1730
A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths
Authors: Nakagawa, M Suehara, M Saito, A Takashima, H Umehara, F Saito, M Kanzato, N Matsuzaki, T Takenaga, S Sakoda, S Izumo, S Osame, M
Citation: M. Nakagawa et al., A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths, NEUROLOGY, 52(6), 1999, pp. 1271-1275
Localized scleroderma associated with progressing ischemic stroke
Authors: Kanzato, N Matsuzaki, T Komine, Y Saito, M Saito, A Yoshio, T Suehara, M
Citation: N. Kanzato et al., Localized scleroderma associated with progressing ischemic stroke, J NEUR SCI, 163(1), 1999, pp. 86-89
HLA class I and class II of the Nivkhi, an indigenous population carrying HTLV-1 in Sakhalin, Far Eastern Russia
Authors: Lou, H Li, HC Kuwayama, M Yashiki, S Fujiyoshi, T Suehara, M Osame, M Yamashita, M Hayami, M Gurtsevich, V Ballas, M Imanishi, T Sonoda, S
Citation: H. Lou et al., HLA class I and class II of the Nivkhi, an indigenous population carrying HTLV-1 in Sakhalin, Far Eastern Russia, TISSUE ANTI, 52(5), 1998, pp. 444-451
Risultati: 1-10 |