Found: 3

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  • Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

    Published in:
    Nature Genetics, 2004, v. 36, n. 3, p. 225, doi. 10.1038/ng1303
    By:
    • Moreira, Maria-Céu;
    • Klur, Sandra;
    • Watanabe, Mitsunori;
    • Németh, Andrea H.;
    • Le Ber, Isabelle;
    • Moniz, José-Carlos;
    • Tranchant, Christine;
    • Aubourg, Patrick;
    • Tazir, Meriem;
    • Schöls, Lüdger;
    • Pandolfo, Massimo;
    • Schulz, Jörg B.;
    • Pouget, Jean;
    • Calvas, Patrick;
    • Shizuka-Ikeda, Masami;
    • Shoji, Mikio;
    • Tanaka, Makoto;
    • Izatt, Louise;
    • Shaw, Christopher E.;
    • M'Zahem, Abderrahim
    Publication type:
    Article

  • The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.

    Published in:
    Nature Genetics, 2001, v. 29, n. 2, p. 189, doi. 10.1038/ng1001-189
    By:
    • Moreira, Maria-Céu;
    • Barbot, Clara;
    • Tachi, Nobutada;
    • Kozuka, Naoki;
    • Uchida, Eiji;
    • Gibson, Toby;
    • Mendonça, Pedro;
    • Costa, Manuela;
    • Barros, José;
    • Yanagisawa, Takayuki;
    • Watanabe, Mitsunori;
    • Ikeda, Yoshio;
    • Aoki, Masashi;
    • Nagata, Tetsuya;
    • Coutinho, Paula;
    • Sequeiros, Jorge;
    • Koenig, Michel
    Publication type:
    Article

  • Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

    Published in:
    JAMA Neurology, 2018, v. 75, n. 4, p. 495, doi. 10.1001/jamaneurol.2017.4373
    By:
    • Renaud, Mathilde;
    • Moreira, Maria-Céu;
    • Ben Monga, Bondo;
    • Rodriguez, Diana;
    • Debs, Rabab;
    • Charles, Perrine;
    • Chaouch, Malika;
    • Ferrat, Farida;
    • Laurencin, Chloé;
    • Vercueil, Laurent;
    • Mallaret, Martial;
    • M’Zahem, Abderrahim;
    • Pacha, Lamia Ali;
    • Tazir, Meriem;
    • Tilikete, Caroline;
    • Ollagnon, Elisabeth;
    • Ochsner, François;
    • Kuntzer, Thierry;
    • Jung, Hans H.;
    • Beis, Jean-Marie
    Publication type:
    Article