Works matching IS 00068950 AND DT 2017 AND VI 140 AND IP 5


Results: 36
    1

    Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

    Published in:
    2017
    By:
    • Wolff, Markus;
    • Johannesen, Katrine M;
    • Hedrich, Ulrike B S;
    • Masnada, Silvia;
    • Rubboli, Guido;
    • Gardella, Elena;
    • Lesca, Gaetan;
    • Ville, Dorothée;
    • Milh, Mathieu;
    • Villard, Laurent;
    • Afenjar, Alexandra;
    • Chantot-Bastaraud, Sandra;
    • Mignot, Cyril;
    • Lardennois, Caroline;
    • Nava, Caroline;
    • Schwarz, Niklas;
    • Gérard, Marion;
    • Perrin, Laurence;
    • Doummar, Diane;
    • Auvin, Stéphane
    Publication type:
    journal article
    2
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    Editorial.

    Published in:
    2017
    By:
    • Kullmann, Dimitri M.
    Publication type:
    Editorial
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    Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

    Published in:
    2017
    By:
    • Siitonen, Maija;
    • rjesson-Hanson, Anne Bö;
    • Pöyhönen, Minna;
    • Ora, Ari;
    • Pasanen, Petra;
    • Bras, Jose;
    • Kern, Silke;
    • Kern, Jürgen;
    • Andersen, Oluf;
    • Stanescu, Horia;
    • Kleta, Robert;
    • Baumann, Marc;
    • Kalaria, Rajesh;
    • Kalimo, Hannu;
    • Singleton, Andy;
    • Hardy, John;
    • Viitanen, Matti;
    • Myllykangas, Liisa;
    • Guerreiro, Rita;
    • Börjesson-Hanson, Anne
    Publication type:
    Letter
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    Glycation potentiates α-synuclein-associated neurodegeneration in synucleinopathies.

    Published in:
    2017
    By:
    • Miranda, Hugo Vicente;
    • Szegő, Éva M.;
    • Luís M. A. Oliveira;
    • Breda, Carlo;
    • Darendelioglu, Ekrem;
    • de Oliveira, Rita M.;
    • Ferreira, Diana G.;
    • Gomes, Marcos A.;
    • Rott, Ruth;
    • Oliveira, Márcia;
    • Munari, Francesca;
    • Enguita, Francisco J.;
    • Simoões, Tânia;
    • Rodrigues, Eva F.;
    • Heinrich, Michael;
    • Martins, Ivo C.;
    • Zamolo, Irina;
    • Riess, Olaf;
    • Cordeiro, Carlos;
    • Ponces-Freire, Ana
    Publication type:
    journal article
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    Clinical and genetic characterization of leukoencephalopathies in adults.

    Published in:
    2017
    By:
    • Lynch, David S.;
    • de Paiva, Anderson Rodrigues Brandão;
    • Wei Jia Zhang;
    • Bugiardini, Enrico;
    • Freua, Fernando;
    • Lucato, Leandro Tavares;
    • Macedo-Souza, Lucia Inês;
    • Lakshmanan, Rahul;
    • Kinsella, Justin A.;
    • Merwick, Aine;
    • Rossor, Alexander M.;
    • Bajaj, Nin;
    • Herron, Brian;
    • McMonagle, Paul;
    • Morrison, Patrick J.;
    • Hughes, Deborah;
    • Pittman, Alan;
    • Laura, Matilde;
    • Reilly, Mary M.;
    • Warren, Jason D.
    Publication type:
    journal article
    26
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    Dissecting gamma frequency activity during human memory processing.

    Published in:
    2017
    By:
    • Kucewicz, Michal T.;
    • Berry, Brent M.;
    • Kremen, Vaclav;
    • Brinkmann, Benjamin H.;
    • Sperling, Michael R.;
    • Jobst, Barbara C.;
    • Gross, Robert E.;
    • Lega, Bradley;
    • Sheth, Sameer A.;
    • Stein, Joel M.;
    • Das, Sandthitsu R.;
    • Gorniak, Richard;
    • Matthew Stead, S.;
    • Rizzuto, Daniel S.;
    • Kahana, Michael J.;
    • Worrell, Gregory A.;
    • Stead, S Matthew
    Publication type:
    journal article
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    ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

    Published in:
    Brain: A Journal of Neurology, 2017, v. 140, n. 5, p. 1267, doi. 10.1093/brain/awx040
    By:
    • Anttonen, Anna-Kaisa;
    • Laari, Anni;
    • Kousi, Maria;
    • Yang, Yawei J.;
    • Jääskeläinen, Tiina;
    • Somer, Mirja;
    • Siintola, Eija;
    • Jakkula, Eveliina;
    • Muona, Mikko;
    • Tegelberg, Saara;
    • nnqvist, Tuula Lö;
    • Pihko, Helena;
    • Valanne, Leena;
    • Paetau, Anders;
    • Lun, Melody P.;
    • Hästbacka, Johanna;
    • Kopra, Outi;
    • Joensuu, Tarja;
    • Katsanis, Nicholas;
    • Lehtinen, Maria K.
    Publication type:
    Article
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