Works matching IS 00068950 AND DT 2013 AND VI 136 AND IP 12

Results: 29
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    Natural history of pulmonary function in collagen VI-related myopathies.

    Published in:
    2013
    By:
    • Foley, A Reghan;
    • Quijano-Roy, Susana;
    • Collins, James;
    • Straub, Volker;
    • McCallum, Michelle;
    • Deconinck, Nicolas;
    • Mercuri, Eugenio;
    • Pane, Marika;
    • D'Amico, Adele;
    • Bertini, Enrico;
    • North, Kathryn;
    • Ryan, Monique M;
    • Richard, Pascale;
    • Allamand, Valérie;
    • Hicks, Debbie;
    • Lamandé, Shireen;
    • Hu, Ying;
    • Gualandi, Francesca;
    • Auh, Sungyoung;
    • Muntoni, Francesco
    Publication type:
    journal article
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    SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

    Published in:
    2013
    By:
    • Krieger, Michael;
    • Roos, Andreas;
    • Stendel, Claudia;
    • Claeys, Kristl G;
    • Sonmez, Fatma Mujgan;
    • Baudis, Michael;
    • Bauer, Peter;
    • Bornemann, Antje;
    • de Goede, Christian;
    • Dufke, Andreas;
    • Finkel, Richard S;
    • Goebel, Hans H;
    • Häussler, Martin;
    • Kingston, Helen;
    • Kirschner, Janbernd;
    • Medne, Livija;
    • Muschke, Petra;
    • Rivier, François;
    • Rudnik-Schöneborn, Sabine;
    • Spengler, Sabrina
    Publication type:
    Journal Article
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    Cell number changes in Alzheimer's disease relate to dementia, not to plaques and tangles.

    Published in:
    2013
    By:
    • Andrade-Moraes, Carlos Humberto;
    • Oliveira-Pinto, Ana V;
    • Castro-Fonseca, Emily;
    • da Silva, Camila G;
    • Guimaraes, Daniel M;
    • Szczupak, Diego;
    • Parente-Bruno, Danielle R;
    • Carvalho, Ludmila R B;
    • Polichiso, Lívia;
    • Gomes, Bruna V;
    • Oliveira, Lays M;
    • Rodriguez, Roberta D;
    • Leite, Renata E P;
    • Ferretti-Rebustini, Renata E L;
    • Jacob-Filho, Wilson;
    • Pasqualucci, Carlos A;
    • Grinberg, Lea T;
    • Lent, Roberto;
    • Guimarães, Daniel M
    Publication type:
    journal article
    13

    Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

    Published in:
    2013
    By:
    • Harlalka, Gaurav V;
    • Lehman, Anna;
    • Chioza, Barry;
    • Baple, Emma L;
    • Maroofian, Reza;
    • Cross, Harold;
    • Sreekantan-Nair, Ajith;
    • Priestman, David A;
    • Al-Turki, Saeed;
    • McEntagart, Meriel E;
    • Proukakis, Christos;
    • Royle, Louise;
    • Kozak, Radoslaw P;
    • Bastaki, Laila;
    • Patton, Michael;
    • Wagner, Karin;
    • Coblentz, Roselyn;
    • Price, Joy;
    • Mezei, Michelle;
    • Schlade-Bartusiak, Kamilla
    Publication type:
    journal article
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    Factors that determine penumbral tissue loss in acute ischaemic stroke.

    Published in:
    2013
    By:
    • Jung, Simon;
    • Gilgen, Marc;
    • Slotboom, Johannes;
    • El-Koussy, Marwan;
    • Zubler, Christoph;
    • Kiefer, Claus;
    • Luedi, Rudolf;
    • Mono, Marie-Luise;
    • Heldner, Mirjam R;
    • Weck, Anja;
    • Mordasini, Pasquale;
    • Schroth, Gerhard;
    • Mattle, Heinrich P;
    • Arnold, Marcel;
    • Gralla, Jan;
    • Fischer, Urs
    Publication type:
    Journal Article
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    SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3634, doi. 10.1093/brain/awt283
    By:
    • Krieger, Michael;
    • Roos, Andreas;
    • Stendel, Claudia;
    • Claeys, Kristl G.;
    • Sonmez, Fatma Mujgan;
    • Baudis, Michael;
    • Bauer, Peter;
    • Bornemann, Antje;
    • de Goede, Christian;
    • Dufke, Andreas;
    • Finkel, Richard S.;
    • Goebel, Hans H.;
    • Häussler, Martin;
    • Kingston, Helen;
    • Kirschner, Janbernd;
    • Medne, Livija;
    • Muschke, Petra;
    • Rivier, François;
    • Rudnik-Schöneborn, Sabine;
    • Spengler, Sabrina
    Publication type:
    Article
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    Sex as a determinant of relapse incidence and progressive course of multiple sclerosis.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3609, doi. 10.1093/brain/awt281
    By:
    • Kalincik, Tomas;
    • Vivek, Vino;
    • Jokubaitis, Vilija;
    • Lechner-Scott, Jeannette;
    • Trojano, Maria;
    • Izquierdo, Guillermo;
    • Lugaresi, Alessandra;
    • Grand’Maison, Francois;
    • Hupperts, Raymond;
    • Oreja-Guevara, Celia;
    • Bergamaschi, Roberto;
    • Iuliano, Gerardo;
    • Alroughani, Raed;
    • Van Pesch, Vincent;
    • Amato, Maria Pia;
    • Slee, Mark;
    • Verheul, Freek;
    • Fernandez-Bolanos, Ricardo;
    • Fiol, Marcela;
    • Spitaleri, Daniele La
    Publication type:
    Article
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    Clinical and polysomnographic course of childhood narcolepsy with cataplexy.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3787, doi. 10.1093/brain/awt277
    By:
    • Pizza, Fabio;
    • Franceschini, Christian;
    • Peltola, Hanna;
    • Vandi, Stefano;
    • Finotti, Elena;
    • Ingravallo, Francesca;
    • Nobili, Lino;
    • Bruni, Oliviero;
    • Lin, Ling;
    • Edwards, Mark J.;
    • Partinen, Markku;
    • Dauvilliers, Yves;
    • Mignot, Emmanuel;
    • Bhatia, Kailash P.;
    • Plazzi, Giuseppe
    Publication type:
    Article
    29

    Editorial.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3515, doi. 10.1093/brain/awt335
    By:
    • Compston, Alastair
    Publication type:
    Article