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1,231 results
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Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia.
Sasaki R, Ichiyasu H, Ito N, Ikeda T, Takano H, Ikeuchi T, Kuzuhara S, Uchino M, Tsuji S, Uyama E. Sasaki R, et al. Neuromuscul Disord. 1999 Dec;9(8):587-92. doi: 10.1016/s0960-8966(99)00050-4. Neuromuscul Disord. 1999. PMID: 10619717
A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
Sasaki R, Takano H, Kamakura K, Kaida K, Hirata A, Saito M, Tanaka H, Kuzuhara S, Tsuji S. Sasaki R, et al. Arch Neurol. 1999 Jun;56(6):692-6. doi: 10.1001/archneur.56.6.692. Arch Neurol. 1999. PMID: 10369308
A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.
Sasaki R, Ito N, Shimamura M, Murakami T, Kuzuhara S, Uchino M, Uyama E. Sasaki R, et al. Muscle Nerve. 2001 Mar;24(3):357-63. doi: 10.1002/1097-4598(200103)24:3<357::aid-mus1006>;2-e. Muscle Nerve. 2001. PMID: 11353420
Early-onset, rapidly progressive familial tauopathy with R406W mutation.
Saito Y, Geyer A, Sasaki R, Kuzuhara S, Nanba E, Miyasaka T, Suzuki K, Murayama S. Saito Y, et al. Neurology. 2002 Mar 12;58(5):811-3. doi: 10.1212/wnl.58.5.811. Neurology. 2002. PMID: 11889249
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
Takano H, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, Didierjean O, Dürr A, Oyake M, Shimohata T, Sasaki R, Koide R, Igarashi S, Hayashi S, Takiyama Y, Nishizawa M, Tanaka H, Zoghbi H, Brice A, Tsuji S. Takano H, et al. Am J Hum Genet. 1998 Oct;63(4):1060-6. doi: 10.1086/302067. Am J Hum Genet. 1998. PMID: 9758625 Free PMC article.
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