Works matching IS 00068950 AND DT 2015 AND VI 138 AND IP 11

Results: 37
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    Is SIGMAR1 a confirmed FTD/MND gene?

    Published in:
    2015
    By:
    • Pickering-Brown, Stuart;
    • Hardy, John;
    • Bernard-Marissal, Nathalie;
    • Médard, Jean-Jacques;
    • Azzedine, Hamid;
    • Chrast, Roman
    Publication type:
    commentary
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    The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

    Published in:
    2015
    By:
    • Bansagi, Boglarka;
    • Griffin, Helen;
    • Ramesh, Venkateswaran;
    • Duff, Jennifer;
    • Pyle, Angela;
    • Chinnery, Patrick F.;
    • Horvath, Rita;
    • Rossor, Alexander M.;
    • Oates, Emily C.;
    • Salter, Hannah K.;
    • Yang Liu;
    • Murphy, Sinead M.;
    • Schule, Rebecca;
    • Gonzales, Michael A.;
    • Scoto, Mariacristina;
    • Phadke, Rahul;
    • Sewry, Caroline A.;
    • Houlden, Henry;
    • Jordanova, Albena;
    • Tournev, Iyailo
    Publication type:
    Letter
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    Clinical and neural effects of six-week administration of oxytocin on core symptoms of autism.

    Published in:
    2015
    By:
    • Takamitsu Watanabe;
    • Miho Kuroda;
    • Hitoshi Kuwabara;
    • Yuta Aoki;
    • Norichika Iwashiro;
    • Natsubori Tatsunobu;
    • Hidemasa Takao;
    • Yasumasa Nippashi;
    • Yuki Kawakubo;
    • Akira Kunimatsu;
    • Kiyoto Kasai;
    • Hidenori Yamasue;
    • Watanabe, Takamitsu;
    • Kuroda, Miho;
    • Kuwabara, Hitoshi;
    • Aoki, Yuta;
    • Iwashiro, Norichika;
    • Tatsunobu, Natsubori;
    • Takao, Hidemasa;
    • Nippashi, Yasumasa
    Publication type:
    journal article
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    Defining reliable disability outcomes in multiple sclerosis.

    Published in:
    2015
    By:
    • Kalincik, Tomas;
    • Cutter, Gary;
    • Spelman, Tim;
    • Jokubaitis, Vilija;
    • Havrdova, Eva;
    • Horakova, Dana;
    • Trojano, Maria;
    • Izquierdo, Guillermo;
    • Girard, Marc;
    • Duquette, Pierre;
    • Prat, Alexandre;
    • Lugaresi, Alessandra;
    • Grand'Maison, Francois;
    • Grammond, Pierre;
    • Hupperts, Raymond;
    • Oreja-Guevara, Celia;
    • Boz, Cavit;
    • Pucci, Eugenio;
    • Bergamaschi, Roberto;
    • Lechner-Scott, Jeannette
    Publication type:
    journal article
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    Fingolimod versus interferon beta/glatiramer acetate after natalizumab suspension in multiple sclerosis.

    Published in:
    2015
    By:
    • Iaffaldano, Pietro;
    • Lucisano, Giuseppe;
    • Pozzilli, Carlo;
    • Morra, Vincenzo Brescia;
    • Ghezzi, Angelo;
    • Millefiorini, Enrico;
    • Patti, Francesco;
    • Lugaresi, Alessandra;
    • Zimatore, Giovanni Bosco;
    • Marrosu, Maria Giovanna;
    • Pia Amato, Maria;
    • Bertolotto, Antonio;
    • Bergamaschi, Roberto;
    • Granella, Franco;
    • Coniglio, Gabriella;
    • Tedeschi, Gioacchino;
    • Sola, Patrizia;
    • Lus, Giacomo;
    • Teresa Ferrò, Maria;
    • Iuliano, Gerardo
    Publication type:
    journal article
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    Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

    Published in:
    2015
    By:
    • Hardies, Katia;
    • de Kovel, Carolien G. F.;
    • Weckhuysen, Sarah;
    • Asselbergh, Bob;
    • Geuens, Thomas;
    • Deconinck, Tine;
    • Azmi, Abdelkrim;
    • May, Patrick;
    • Brilstra, Eva;
    • Becker, Felicitas;
    • Barisic, Nina;
    • Craiu, Dana;
    • Braun, Kees P. J.;
    • Lal, Dennis;
    • Thiele, Holger;
    • Schubert, Julian;
    • Weber, Yvonne;
    • van 't Slot, Ruben;
    • Nürnberg, Peter;
    • Balling, Rudi
    Publication type:
    journal article
    26

    Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease.

    Published in:
    2015
    By:
    • Teixeira-Castro, Andreia;
    • Jalles, Ana;
    • Esteves, Sofia;
    • Soosung Kang;
    • da Silva Santos, Liliana;
    • Silva-Fernandes, Anabela;
    • Neto, Mário F.;
    • Brielmann, Renée M.;
    • Bessa, Carlos;
    • Duarte-Silva, Sara;
    • Miranda, Adriana;
    • Oliveira, Stéphanie;
    • Neves-Carvalho, Andreia;
    • Bessa, João;
    • Summavielle, Teresa;
    • Silverman, Richard B.;
    • Oliveira, Pedro;
    • Morimoto, Richard I.;
    • Maciel, Patrícia;
    • Kang, Soosung
    Publication type:
    journal article
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    Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

    Published in:
    2015
    By:
    • Sanmaneechai, Oranee;
    • Feely, Shawna;
    • Scherer, Steven S.;
    • Herrmann, David N.;
    • Burns, Joshua;
    • Muntoni, Francesco;
    • Jun Li;
    • Siskind, Carly E.;
    • Day, John W.;
    • Laura, Matilde;
    • Sumner, Charlotte J.;
    • Lloyd, Thomas E.;
    • Ramchandren, Sindhu;
    • Shy, Rosemary R.;
    • Grider, Tiffany;
    • Bacon, Chelsea;
    • Finkel, Richard S.;
    • Yum, Sabrina W.;
    • Moroni, Isabella;
    • Piscosquito, Giuseppe
    Publication type:
    journal article
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    Blocking bad.

    Published in:
    2015
    By:
    • Scherer, Steven S.
    Publication type:
    journal article
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