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Pure cerebellar ataxia phenotype in Machado-Joseph disease.
Ishikawa K, Mizusawa H, Igarashi S, Takiyama Y, Tanaka H, Ohkoshi N, Shoji S, Tsuji S. Ishikawa K, et al. Among authors: tsuji s. Neurology. 1996 Jun;46(6):1776-7. doi: 10.1212/wnl.46.6.1776. Neurology. 1996. PMID: 8649595 No abstract available.
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
Igarashi S, Takiyama Y, Cancel G, Rogaeva EA, Sasaki H, Wakisaka A, Zhou YX, Takano H, Endo K, Sanpei K, Oyake M, Tanaka H, Stevanin G, Abbas N, Dürr A, Rogaev EI, Sherrington R, Tsuda T, Ikeda M, Cassa E, Nishizawa M, Benomar A, Julien J, Weissenbach J, Wang GX, Agid Y, St George-Hyslop PH, Brice A, Tsuji S. Igarashi S, et al. Among authors: tsuji s. Hum Mol Genet. 1996 Jul;5(7):923-32. doi: 10.1093/hmg/5.7.923. Hum Mol Genet. 1996. PMID: 8817326
Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease.
Endo K, Sasaki H, Wakisaka A, Tanaka H, Saito M, Igarashi S, Takiyama Y, Sanpei K, Iwabuchi K, Suzuki Y, Onari K, Suzuki T, Weissenbach J, Weber JL, Nomura Y, Segawa M, Nishizawa M, Tsuji S. Endo K, et al. Among authors: tsuji s. Am J Med Genet. 1996 Sep 20;67(5):437-44. doi: 10.1002/(SICI)1096-8628(19960920)67:5<437::AID-AJMG1>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8886159
Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family.
Takiyama Y, Shimazaki H, Morita M, Soutome M, Sakoe K, Esumi E, Muramatsu S, Yoshida M, Igarashi S, Tanaka H, Tsuji S, Sasaki H, Wakisaka A, Nakano I, Nishizawa M. Takiyama Y, et al. Among authors: tsuji s. J Neurol Sci. 1998 Mar 5;155(2):141-5. doi: 10.1016/s0022-510x(98)00012-4. J Neurol Sci. 1998. PMID: 9562258
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.
Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, Riess O, Sasaki H, Hsieh M, Nicholson GA, Brunt E, Higgins JJ, Lauritzen M, Tranebjaerg L, Volpini V, Wood N, Ranum L, Tsuji S, Brice A, Sequeiros J, Rouleau GA. Gaspar C, et al. Among authors: tsuji s. Am J Hum Genet. 2001 Feb;68(2):523-8. doi: 10.1086/318184. Epub 2000 Dec 20. Am J Hum Genet. 2001. PMID: 11133357 Free PMC article.
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.
Silveira I, Miranda C, Guimarães L, Moreira MC, Alonso I, Mendonça P, Ferro A, Pinto-Basto J, Coelho J, Ferreirinha F, Poirier J, Parreira E, Vale J, Januário C, Barbot C, Tuna A, Barros J, Koide R, Tsuji S, Holmes SE, Margolis RL, Jardim L, Pandolfo M, Coutinho P, Sequeiros J. Silveira I, et al. Among authors: tsuji s. Arch Neurol. 2002 Apr;59(4):623-9. doi: 10.1001/archneur.59.4.623. Arch Neurol. 2002. PMID: 11939898
Dementia and delirium in 4 patients with Machado-Joseph disease.
Ishikawa A, Yamada M, Makino K, Aida I, Idezuka J, Ikeuchi T, Soma Y, Takahashi H, Tsuji S. Ishikawa A, et al. Among authors: tsuji s. Arch Neurol. 2002 Nov;59(11):1804-8. doi: 10.1001/archneur.59.11.1804. Arch Neurol. 2002. PMID: 12433269
2,701 results