Works matching IS 03405354 AND DT 2009 AND VI 256 AND IP 11


Results: 32
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    Prevalence of neuromyelitis optica spectrum disorder and phenotype distribution.

    Published in:
    Journal of Neurology, 2009, v. 256, n. 11, p. 1891, doi. 10.1007/s00415-009-5171-x
    By:
    • Bizzoco, Elisa;
    • Lolli, Francesco;
    • Repice, Anna Maria;
    • Hakiki, Bahia;
    • Falcini, Mario;
    • Barilaro, Alessandro;
    • Taiuti, Rosanna;
    • Siracusa, Gianfranco;
    • Amato, Maria Pia;
    • Biagioli, Tiziana;
    • Lori, Silvia;
    • Moretti, Marco;
    • Vinattieri, Annalisa;
    • Nencini, Patrizia;
    • Massacesi, Luca;
    • Matà, Sabrina
    Publication type:
    Article
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    Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

    Published in:
    Journal of Neurology, 2009, v. 256, n. 11, p. 1881, doi. 10.1007/s00415-009-5219-y
    By:
    • Oba-Shinjo, Sueli M.;
    • da Silva, Roseli;
    • Andrade, Fernanda G.;
    • Palmer, Rachel E.;
    • Pomponio, Robert J.;
    • Ciociola, Kristina M.;
    • Carvalho, Mary S.;
    • Gutierrez, Paulo S.;
    • Porta, Gilda;
    • Marrone, Carlo D.;
    • Munoz, Verônica;
    • Grzesiuk, Anderson K.;
    • Llerena, Jr., Juan C.;
    • Berditchevsky, Célia R.;
    • Sobreira, Claudia;
    • Horovitz, Dafne;
    • Hatem, Thamine P.;
    • Frota, Elizabeth R. C.;
    • Pecchini, Rogerio;
    • Kouyoumdjian, João Aris
    Publication type:
    Article
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    Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).

    Published in:
    Journal of Neurology, 2009, v. 256, n. 11, p. 1816, doi. 10.1007/s00415-009-5198-z
    By:
    • López-Laso, Eduardo;
    • Ochoa-Sepúlveda, Juan José;
    • Ochoa-Amor, Juan José;
    • Bescansa-Heredero, Enrique;
    • Camino-León, Rafael;
    • Gascón-Jiménez, Francisco Javier;
    • Mateos-González, Maria Elena;
    • Pérez-Navero, Juan Luis;
    • Lao-Villadóniga, José Ignacio;
    • Ormazabal, Aida;
    • Artuch, Rafael;
    • Beyer, Katrin
    Publication type:
    Article
    29

    Missense exchanges in the TTBK2 gene mutated in SCA11.

    Published in:
    Journal of Neurology, 2009, v. 256, n. 11, p. 1856, doi. 10.1007/s00415-009-5209-0
    By:
    • Edener, Ulf;
    • Kurth, Ingo;
    • Meiner, Annechristin;
    • Hoffmann, Frank;
    • Hübner, Christian A.;
    • Bernard, Veronica;
    • Gillessen-Kaesbach, Gabriele;
    • Zühlke, Christine
    Publication type:
    Article
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