Search Results - Catherine Brunel‐Guitton

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  1. 1
    LRPPRC and SLIRP Interact in a Ribonucleoprotein Complex That Regulates Posttranscriptional Gene Expression in Mitochondria

    LRPPRC and SLIRP Interact in a Ribonucleoprotein Complex That Regulates Posttranscriptional Gene Expression in Mitochondria by Florin Sasarman, Catherine Brunel‐Guitton, Hana Antonická, Timothy Wai, Eric A. Shoubridge

    Published 2010
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  2. 2
    Acute pediatric hyperammonemia: current diagnosis and management strategies

    Acute pediatric hyperammonemia: current diagnosis and management strategies by Nadia Savy, David Brossier, Catherine Brunel‐Guitton, Laurence Ducharme-Crevier, Geneviève Du Pont‐Thibodeau, Philippe Jouvet

    Published 2018
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  3. 3
    The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1

    The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1 by Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, Steven Salomon, Catalina Maftei, Julie D. Gauthier, Benjamin Ellazam, Neil Webb, Hana Antonická, Alexandre Janer, Catherine Brunel‐Guitton, Orly Elpeleg, Grant A. Mitchell, Eric A. Shoubridge

    Published 2015
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  4. 4
    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 by 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

    Published 2014
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  5. 5
    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society by Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel‐Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, Marni J. Falk, Annette Feigenbaum, Richard E. Frye, Jaya Ganesh, David A. Griesemer, Richard Haas, Rita Horváth, Mark Korson, Michael C. Kruer, Michelangelo Mancuso, Shana E. McCormack, Marie Josée Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P. Saneto, Fernando Scaglia, John M. Shoffner, Peter W. Stacpoole, Carolyn M. Sue, Mark A. Tarnopolsky, Clara van Karnebeek, Lynne A. Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F. Chinnery

    Published 2017
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