Works matching IS 00068950 AND DT 2013 AND VI 136 AND IP 1


Results: 43
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    ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 269
    By:
    • Cirak, Sebahattin;
    • Foley, Aileen Reghan;
    • Herrmann, Ralf;
    • Willer, Tobias;
    • Yau, Shu;
    • Stevens, Elizabeth;
    • Torelli, Silvia;
    • Brodd, Lina;
    • Kamynina, Alisa;
    • Vondracek, Petr;
    • Roper, Helen;
    • Longman, Cheryl;
    • Korinthenberg, Rudolf;
    • Marrosu, Gianni;
    • Nürnberg, Peter;
    • Michele, Daniel E.;
    • Plagnol, Vincent;
    • Hurles, Matt;
    • Moore, Steven A.;
    • Sewry, Caroline A.
    Publication type:
    Article
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    Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 194, doi. 10.1093/brain/aws317
    By:
    • Totonchy, Mariam B.;
    • Tamura, Deborah;
    • Pantell, Matthew S.;
    • Zalewski, Christopher;
    • Bradford, Porcia T.;
    • Merchant, Saumil N.;
    • Nadol, Joseph;
    • Khan, Sikandar G.;
    • Schiffmann, Raphael;
    • Pierson, Tyler Mark;
    • Wiggs, Edythe;
    • Griffith, Andrew J.;
    • DiGiovanna, John J.;
    • Kraemer, Kenneth H.;
    • Brewer, Carmen C.
    Publication type:
    Article
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    The spectrum of disease in chronic traumatic encephalopathy.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 43, doi. 10.1093/brain/aws307
    By:
    • McKee, Ann C.;
    • Stein, Thor D.;
    • Nowinski, Christopher J.;
    • Stern, Robert A.;
    • Daneshvar, Daniel H.;
    • Alvarez, Victor E.;
    • Lee, Hyo-Soon;
    • Hall, Garth;
    • Wojtowicz, Sydney M.;
    • Baugh, Christine M.;
    • Riley, David O.;
    • Kubilus, Caroline A.;
    • Cormier, Kerry A.;
    • Jacobs, Matthew A.;
    • Martin, Brett R.;
    • Abraham, Carmela R.;
    • Ikezu, Tsuneya;
    • Reichard, Robert Ross;
    • Wolozin, Benjamin L.;
    • Budson, Andrew E.
    Publication type:
    Article
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    SGCE mutations cause psychiatric disorders: clinical and genetic characterization.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 294, doi. 10.1093/brain/aws308
    By:
    • Peall, Kathryn J.;
    • Smith, Daniel J.;
    • Kurian, Manju A.;
    • Wardle, Mark;
    • Waite, Adrian J.;
    • Hedderly, Tammy;
    • Lin, Jean-Pierre;
    • Smith, Martin;
    • Whone, Alan;
    • Pall, Hardev;
    • White, Cathy;
    • Lux, Andrew;
    • Jardine, Philip;
    • Bajaj, Narinder;
    • Lynch, Bryan;
    • Kirov, George;
    • O’Riordan, Sean;
    • Samuel, Michael;
    • Lynch, Timothy;
    • King, Mary D.
    Publication type:
    Article
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    Editorial.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 1, doi. 10.1093/brain/aws350
    By:
    • Compston, Alastair
    Publication type:
    Article
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    Neuronal activity correlated with checking behaviour in the subthalamic nucleus of patients with obsessive–compulsive disorder.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 304
    By:
    • Burbaud, Pierre;
    • Clair, Anne-Hélène;
    • Langbour, Nicolas;
    • Fernandez-Vidal, Sara;
    • Goillandeau, Michel;
    • Michelet, Thomas;
    • Bardinet, Eric;
    • Chéreau, Isabelle;
    • Durif, Franck;
    • Polosan, Mircea;
    • Chabardès, Stephan;
    • Fontaine, Denys;
    • Magnié-Mauro, Marie-Noelle;
    • Houeto, Jean-Luc;
    • Bataille, Benoît;
    • Millet, Bruno;
    • Vérin, Marc;
    • Baup, Nicolas;
    • Krebs, Marie-Odile;
    • Cornu, Philippe
    Publication type:
    Article
    31

    Melatonin augments hypothermic neuroprotection in a perinatal asphyxia model.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 90, doi. 10.1093/brain/aws285
    By:
    • Robertson, Nicola J.;
    • Faulkner, Stuart;
    • Fleiss, Bobbi;
    • Bainbridge, Alan;
    • Andorka, Csilla;
    • Price, David;
    • Powell, Elizabeth;
    • Lecky-Thompson, Lucy;
    • Thei, Laura;
    • Chandrasekaran, Manigandan;
    • Hristova, Mariya;
    • Cady, Ernest B.;
    • Gressens, Pierre;
    • Golay, Xavier;
    • Raivich, Gennadij
    Publication type:
    Article
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    Fibronectin aggregation in multiple sclerosis lesions impairs remyelination.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 116, doi. 10.1093/brain/aws313
    By:
    • Stoffels, Josephine M. J.;
    • de Jonge, Jenny C.;
    • Stancic, Mirjana;
    • Nomden, Anita;
    • van Strien, Miriam E.;
    • Ma, Dan;
    • Šišková, Zuzana;
    • Maier, Olaf;
    • ffrench-Constant, Charles;
    • Franklin, Robin J. M.;
    • Hoekstra, Dick;
    • Zhao, Chao;
    • Baron, Wia
    Publication type:
    Article
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    From The Archives.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 5, doi. 10.1093/brain/aws347
    By:
    • Compston, Alastair
    Publication type:
    Article
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    Antagonism of purinergic signalling improves recovery from traumatic brain injury.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 65, doi. 10.1093/brain/aws286
    By:
    • Choo, Anthony M.;
    • Miller, William J.;
    • Chen, Yung-Chia;
    • Nibley, Philip;
    • Patel, Tapan P.;
    • Goletiani, Cezar;
    • Morrison, Barclay;
    • Kutzing, Melinda K.;
    • Firestein, Bonnie L.;
    • Sul, Jai-Yoon;
    • Haydon, Philip G.;
    • Meaney, David F.
    Publication type:
    Article
    38

    Mapping motor representations in the human cerebellum.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 330, doi. 10.1093/brain/aws186
    By:
    • Mottolese, Carmine;
    • Richard, Nathalie;
    • Harquel, Sylvain;
    • Szathmari, Alexandru;
    • Sirigu, Angela;
    • Desmurget, Michel
    Publication type:
    Article
    39

    Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 282, doi. 10.1093/brain/aws293
    By:
    • Weterman, Marian A. J.;
    • Barth, Peter G.;
    • van Spaendonck-Zwarts, Karin Y.;
    • Aronica, Eleonora;
    • Poll-The, Bwee-Tien;
    • Brouwer, Oebele F.;
    • van Tintelen, J. Peter;
    • Qahar, Zohal;
    • Bradley, Edward J.;
    • de Wissel, Marit;
    • Salviati, Leonardo;
    • Angelini, Corrado;
    • van den Heuvel, Lambertus;
    • Thomasse, Yolande E. M.;
    • Backx, Ad P.;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • Baas, Frank
    Publication type:
    Article
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