Found: 5

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  • Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 6, p. 914, doi. 10.1002/ana.23963
    By:
    • Nilsson, Johanna;
    • Schoser, Benedikt;
    • Laforet, Pascal;
    • Kalev, Ognian;
    • Lindberg, Christopher;
    • Romero, Norma B.;
    • Dávila López, Marcela;
    • Akman, Hasan O.;
    • Wahbi, Karim;
    • Iglseder, Stephan;
    • Eggers, Christian;
    • Engel, Andrew G.;
    • DiMauro, Salvatore;
    • Oldfors, Anders
    Publication type:
    Article

  • The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.

    Published in:
    Journal of Neurology, 2023, v. 270, n. 2, p. 909, doi. 10.1007/s00415-022-11440-0
    By:
    • Krenn, Martin;
    • Sener, Merve;
    • Rath, Jakob;
    • Zulehner, Gudrun;
    • Keritam, Omar;
    • Wagner, Matias;
    • Laccone, Franco;
    • Iglseder, Stephan;
    • Marte, Sonja;
    • Baumgartner, Manuela;
    • Eisenkölbl, Astrid;
    • Liechtenstein, Christian;
    • Rudnik, Sabine;
    • Quasthoff, Stefan;
    • Grinzinger, Susanne;
    • Spenger, Johannes;
    • Wortmann, Saskia B.;
    • Löscher, Wolfgang N.;
    • Zimprich, Fritz;
    • Kellersmann, Anna
    Publication type:
    Article

  • High efficacy of rituximab for myasthenia gravis: a comprehensive nationwide study in Austria.

    Published in:
    Journal of Neurology, 2019, v. 266, n. 3, p. 699, doi. 10.1007/s00415-019-09191-6
    By:
    • Topakian, Raffi;
    • Zimprich, Fritz;
    • Iglseder, Stephan;
    • Embacher, Norbert;
    • Guger, Michael;
    • Stieglbauer, Karl;
    • Langenscheidt, Dieter;
    • Rath, Jakob;
    • Quasthoff, Stefan;
    • Simschitz, Philipp;
    • Wanschitz, Julia;
    • Windisch, David;
    • Müller, Petra;
    • Oel, Dierk;
    • Schustereder, Günther;
    • Einsiedler, Stefan;
    • Eggers, Christian;
    • Löscher, Wolfgang
    Publication type:
    Article

  • Hereditary transthyretin‐related amyloidosis.

    Published in:
    Acta Neurologica Scandinavica, 2019, v. 139, n. 2, p. 92, doi. 10.1111/ane.13035
    By:
    • Finsterer, Josef;
    • Iglseder, Stephan;
    • Wanschitz, Julia;
    • Topakian, Raffi;
    • Löscher, Wolfgang N.;
    • Grisold, Wolfgang
    Publication type:
    Article

  • Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study.

    Published in:
    European Journal of Neurology, 2022, v. 29, n. 6, p. 1815, doi. 10.1111/ene.15306
    By:
    • Krenn, Martin;
    • Tomschik, Matthias;
    • Wagner, Matias;
    • Zulehner, Gudrun;
    • Weng, Rosa;
    • Rath, Jakob;
    • Klotz, Sigrid;
    • Gelpi, Ellen;
    • Bsteh, Gabriel;
    • Keritam, Omar;
    • Colonna, Isabella;
    • Paternostro, Chiara;
    • Jäger, Fiona;
    • Lindeck‐Pozza, Elisabeth;
    • Iglseder, Stephan;
    • Grinzinger, Susanne;
    • Schönfelder, Martina;
    • Hohenwarter, Christina;
    • Freimüller, Manfred;
    • Embacher, Norbert
    Publication type:
    Article