Resultados de procura - Justin D. Wagner

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  1. 1
    Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

    Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature por Stephanie M. Luco, Daniela Pohl, Erick Sell, Justin D. Wagner, David A. Dyment, Hussein Daoud

    Publicado 2016
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  2. 2
    Homozygous mutations in<i>MFN2</i>cause multiple symmetric lipomatosis associated with neuropathy

    Homozygous mutations in<i>MFN2</i>cause multiple symmetric lipomatosis associated with neuropathy por Sarah L. Sawyer, Andy Cheuk‐Him Ng, A. Micheil Innes, Justin D. Wagner, David A. Dyment, Martine Tétreault, Jacek Majewski, Kym M. Boycott, Robert A. Screaton, Garth A. Nicholson

    Publicado 2015
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  3. 3
    XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

    XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia por Nícolas C. Hoch, Hana Hanzlíková, Stuart L. Rulten, Martine Tétreault, Emilia Komulainen, Limei Ju, P. Hornyak, Zhihong Zeng, William H. Gittens, Stéphanie Rey, Kevin Staras, Grazia M.S. Mancini, Peter J. McKinnon, Zhao‐Qi Wang, Justin D. Wagner, Grace Yoon, Keith W. Caldecott

    Publicado 2016
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  4. 4
    Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

    Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy por Devon L. Johnstone, Thi-Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D. Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D. Wagner, Lijia Huang, Taila Hartley, Anik St‐Denis, Françoise Le Deist, Jacek Majewski, Dennis E. Bulman, Taroh Kinoshita, David A. Dyment, Kym M. Boycott, Philippe M. Campeau

    Publicado 2017
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  5. 5
    De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

    De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy por Jae-Ran Lee, Myriam Srour, Doyoun Kim, Fadi F. Hamdan, So-Hee Lim, Catherine Brunel‐Guitton, Jean-Claude Décarie, Elsa Rossignol, Grant A. Mitchell, Allison Schreiber, Rocio Moran, Keith Van Haren, Randal Richardson, Joost Nicolai, Karin Oberndorff, Justin D. Wagner, Kym M. Boycott, Elisa Rahikkala, Nella Junna, Henna Tyynismaa, Inge Cuppen, Nienke E. Verbeek, Connie T. R. M. Stumpel, Michèl A.A.P. Willemsen, Sonja A. de Munnik, Guy A. Rouleau, Eunjoon Kim, Erik-Jan Kamsteeg, Tjitske Kleefstra, Jacques L. Michaud

    Publicado 2014
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