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Spinocerebellar ataxias caused by polyglutamine expansions.
Stevanin G, Dürr A, Brice A. Stevanin G, et al. Among authors: brice a. Adv Exp Med Biol. 2002;516:47-77. doi: 10.1007/978-1-4615-0117-6_3. Adv Exp Med Biol. 2002. PMID: 12611435 Review. No abstract available.
PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases.
Takahashi J, Fujigasaki H, Iwabuchi K, Bruni AC, Uchihara T, El Hachimi KH, Stevanin G, Dürr A, Lebre AS, Trottier Y, de Thé H, Tanaka J, Hauw JJ, Duyckaerts C, Brice A. Takahashi J, et al. Among authors: brice a. Neurobiol Dis. 2003 Aug;13(3):230-7. doi: 10.1016/s0969-9961(03)00080-9. Neurobiol Dis. 2003. PMID: 12901837
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimarães J, Mendonça P, Barbot C, Coutinho P, Sequeiros J, Dürr A, Warter JM, Koenig M. Moreira MC, et al. Among authors: brice a. Nat Genet. 2004 Mar;36(3):225-7. doi: 10.1038/ng1303. Epub 2004 Feb 8. Nat Genet. 2004. PMID: 14770181 Free article.
1,097 results