Works matching IS 00068950 AND DT 2013 AND VI 136 AND IP 2


Results: 44
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    C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

    Published in:
    2013
    By:
    • Lesage, Suzanne;
    • Le Ber, Isabelle;
    • Condroyer, Christel;
    • Broussolle, Emmanuel;
    • Gabelle, Audrey;
    • Thobois, Stéphane;
    • Pasquier, Florence;
    • Mondon, Karl;
    • Dion, Patrick A;
    • Rochefort, Daniel;
    • Rouleau, Guy A;
    • Dürr, Alexandra;
    • Brice, Alexis;
    • French Parkinson's Disease Genetics (PDG) Study Group;
    • French Parkinson’s Disease Genetics Study Group
    Publication type:
    journal article
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    CHOP regulates the p53–MDM2 axis and is required for neuronal survival after seizures.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 577, doi. 10.1093/brain/aws337
    By:
    • Engel, Tobias;
    • Sanz-Rodgriguez, Amaya;
    • Jimenez-Mateos, Eva M.;
    • Concannon, Caoimhin G.;
    • Jimenez-Pacheco, Alba;
    • Moran, Catherine;
    • Mesuret, Guillaume;
    • Petit, Emilie;
    • Delanty, Norman;
    • Farrell, Michael A.;
    • O’Brien, Donncha F.;
    • Prehn, Jochen H. M.;
    • Lucas, Jose J.;
    • Henshall, David C.
    Publication type:
    Article
    12

    From The Archives.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 362, doi. 10.1093/brain/awt006
    By:
    • Compston, Alastair
    Publication type:
    Article
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    Editorial.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 359, doi. 10.1093/brain/awt011
    By:
    • Compston, Alastair
    Publication type:
    Article
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    A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 522, doi. 10.1093/brain/aws345
    By:
    • Chew, Sheena;
    • Balasubramanian, Ravikumar;
    • Chan, Wai-Man;
    • Kang, Peter B.;
    • Andrews, Caroline;
    • Webb, Bryn D.;
    • MacKinnon, Sarah E.;
    • Oystreck, Darren T.;
    • Rankin, Jessica;
    • Crawford, Thomas O.;
    • Geraghty, Michael;
    • Pomeroy, Scott L.;
    • Crowley, William F.;
    • Jabs, Ethylin Wang;
    • Hunter, David G.;
    • Grant, Patricia E.;
    • Engle, Elizabeth C.
    Publication type:
    Article
    18

    K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 494, doi. 10.1093/brain/aws348
    By:
    • Mokbel, Nancy;
    • Ilkovski, Biljana;
    • Kreissl, Michaela;
    • Memo, Massimiliano;
    • Jeffries, Cy M.;
    • Marttila, Minttu;
    • Lehtokari, Vilma-Lotta;
    • Lemola, Elina;
    • Grönholm, Mikaela;
    • Yang, Nan;
    • Menard, Dominique;
    • Marcorelles, Pascale;
    • Echaniz-Laguna, Andoni;
    • Reimann, Jens;
    • Vainzof, Mariz;
    • Monnier, Nicole;
    • Ravenscroft, Gianina;
    • McNamara, Elyshia;
    • Nowak, Kristen J.;
    • Laing, Nigel G.
    Publication type:
    Article
    19

    Temporal expectation in focal hand dystonia.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 444, doi. 10.1093/brain/aws328
    By:
    • Avanzino, Laura;
    • Martino, Davide;
    • Martino, Isadora;
    • Pelosin, Elisa;
    • Vicario, Carmelo M.;
    • Bove, Marco;
    • Defazio, Gianni;
    • Abbruzzese, Giovanni
    Publication type:
    Article
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    Oligodendrocyte dysfunction in the pathogenesis of amyotrophic lateral sclerosis.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 471, doi. 10.1093/brain/aws339
    By:
    • Philips, Thomas;
    • Bento-Abreu, Andre;
    • Nonneman, Annelies;
    • Haeck, Wanda;
    • Staats, Kim;
    • Geelen, Veerle;
    • Hersmus, Nicole;
    • Küsters, Benno;
    • Van Den Bosch, Ludo;
    • Van Damme, Philip;
    • Richardson, William D.;
    • Robberecht, Wim
    Publication type:
    Article
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    A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 412, doi. 10.1093/brain/aws358
    By:
    • Nuber, Silke;
    • Harmuth, Florian;
    • Kohl, Zacharias;
    • Adame, Anthony;
    • Trejo, Margaritha;
    • Schönig, Kai;
    • Zimmermann, Frank;
    • Bauer, Claudia;
    • Casadei, Nicolas;
    • Giel, Christiane;
    • Calaminus, Carsten;
    • Pichler, Bernd J.;
    • Jensen, Poul H.;
    • Müller, Christian P.;
    • Amato, Davide;
    • Kornhuber, Johannes;
    • Teismann, Peter;
    • Yamakado, Hodaka;
    • Takahashi, Ryosuke;
    • Winkler, Juergen
    Publication type:
    Article
    24

    Degeneration of serotonergic neurons in amyotrophic lateral sclerosis: a link to spasticity.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 483, doi. 10.1093/brain/aws274
    By:
    • Dentel, Christel;
    • Palamiuc, Lavinia;
    • Henriques, Alexandre;
    • Lannes, Béatrice;
    • Spreux-Varoquaux, Odile;
    • Gutknecht, Lise;
    • René, Frédérique;
    • Echaniz-Laguna, Andoni;
    • Gonzalez de Aguilar, Jose-Luis;
    • Lesch, Klaus Peter;
    • Meininger, Vincent;
    • Loeffler, Jean-Philippe;
    • Dupuis, Luc
    Publication type:
    Article
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    C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 385
    By:
    • Lesage, Suzanne;
    • Le Ber, Isabelle;
    • Condroyer, Christel;
    • Broussolle, Emmanuel;
    • Gabelle, Audrey;
    • Thobois, Stéphane;
    • Pasquier, Florence;
    • Mondon, Karl;
    • Dion, Patrick A.;
    • Rochefort, Daniel;
    • Rouleau, Guy A.;
    • Dürr, Alexandra;
    • Brice, Alexis
    Publication type:
    Article
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    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 536, doi. 10.1093/brain/aws338
    By:
    • Cushion, Thomas D.;
    • Dobyns, William B.;
    • Mullins, Jonathan G. L.;
    • Stoodley, Neil;
    • Chung, Seo-Kyung;
    • Fry, Andrew E.;
    • Hehr, Ute;
    • Gunny, Roxana;
    • Aylsworth, Arthur S.;
    • Prabhakar, Prab;
    • Uyanik, Gökhan;
    • Rankin, Julia;
    • Rees, Mark I.;
    • Pilz, Daniela T.
    Publication type:
    Article
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    Damage to ventral and dorsal language pathways in acute aphasia.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 619
    By:
    • Kümmerer, Dorothee;
    • Hartwigsen, Gesa;
    • Kellmeyer, Philipp;
    • Glauche, Volkmar;
    • Mader, Irina;
    • Klöppel, Stefan;
    • Suchan, Julia;
    • Karnath, Hans-Otto;
    • Weiller, Cornelius;
    • Saur, Dorothee
    Publication type:
    Article
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    Sex, drugs and Parkinson’s disease.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 371, doi. 10.1093/brain/awt022
    By:
    • Ushe, Mwiza;
    • Perlmutter, Joel S.
    Publication type:
    Article
    43

    Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 508, doi. 10.1093/brain/aws344
    By:
    • Davidson, Ann E.;
    • Siddiqui, Fazeel M.;
    • Lopez, Michael A.;
    • Lunt, Peter;
    • Carlson, Heather A.;
    • Moore, Brian E.;
    • Love, Seth;
    • Born, Donald E.;
    • Roper, Helen;
    • Majumdar, Anirban;
    • Jayadev, Suman;
    • Underhill, Hunter R.;
    • Smith, Corrine O.;
    • von der Hagen, Maja;
    • Hubner, Angela;
    • Jardine, Philip;
    • Merrison, Andria;
    • Curtis, Elizabeth;
    • Cullup, Thomas;
    • Jungbluth, Heinz
    Publication type:
    Article
    44

    Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. e231, doi. 10.1093/brain/aws280
    By:
    • Barboni, Piero;
    • Valentino, Maria Lucia;
    • La Morgia, Chiara;
    • Carbonelli, Michele;
    • Savini, Giacomo;
    • De Negri, Annamaria;
    • Simonelli, Francesca;
    • Sadun, Federico;
    • Caporali, Leonardo;
    • Maresca, Alessandra;
    • Liguori, Rocco;
    • Baruzzi, Agostino;
    • Zeviani, Massimo;
    • Carelli, Valerio
    Publication type:
    Article