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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: warter jm. Nat Genet. 2004 Mar;36(3):225-7. doi: 10.1038/ng1303. Epub 2004 Feb 8. Nat Genet. 2004. PMID: 14770181 Free article.
Clinical and molecular features of spinocerebellar ataxia type 6.
Stevanin G, Dürr A, David G, Didierjean O, Cancel G, Rivaud S, Tourbah A, Warter JM, Agid Y, Brice A. Stevanin G, et al. Among authors: warter jm. Neurology. 1997 Nov;49(5):1243-6. doi: 10.1212/wnl.49.5.1243. Neurology. 1997. PMID: 9371901
Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.
Ancolio K, Dumanchin C, Barelli H, Warter JM, Brice A, Campion D, Frébourg T, Checler F. Ancolio K, et al. Among authors: warter jm. Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):4119-24. doi: 10.1073/pnas.96.7.4119. Proc Natl Acad Sci U S A. 1999. PMID: 10097173 Free PMC article.
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A, Castelnovo G, Deonna T, Gérard P, Devoize JL, Gayou A, Perrouty B, Soisson T, Autret A, Warter JM, Vighetto A, Van Bogaert P, Alamowitch S, Roullet E, Tournier-Lasserve E. Denier C, et al. Among authors: warter jm. Neurology. 1999 Jun 10;52(9):1816-21. doi: 10.1212/wnl.52.9.1816. Neurology. 1999. PMID: 10371528
242 results