Works by Choquet, Karine


Results: 16
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    Sacs R272C missense homozygous mice develop an ataxia phenotype.

    Published in:
    Molecular Brain, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13041-019-0438-3
    By:
    • Larivière, Roxanne;
    • Sgarioto, Nicolas;
    • Márquez, Brenda Toscano;
    • Gaudet, Rébecca;
    • Choquet, Karine;
    • McKinney, R. Anne;
    • Watt, Alanna J.;
    • Brais, Bernard
    Publication type:
    Article
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    Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

    Published in:
    2016
    By:
    • Choquet, Karine;
    • Zurita-Rendón, Olga;
    • La Piana, Roberta;
    • Sharon Yang;
    • Dicaire, Marie-Joseè;
    • Boycott, Kym M.;
    • Majewski, Jacek;
    • Shoubridge, Eric A.;
    • Brais, Bernard;
    • Tètreault, Martine;
    • Yoon, Grace;
    • Delague, Valèrie;
    • Mègarbane, Andrè;
    • Isaya, Grazia;
    • Yang, Sharon;
    • Dicaire, Marie-Josée;
    • Care4Rare Consortium;
    • Tétreault, Martine
    Publication type:
    Case Study
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    Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

    Published in:
    Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 940, doi. 10.1002/mdc3.13086
    By:
    • Gauquelin, Laurence;
    • Hartley, Taila;
    • Tarnopolsky, Mark;
    • Dyment, David A.;
    • Brais, Bernard;
    • Geraghty, Michael T.;
    • Tétreault, Martine;
    • Ahmed, Sohnee;
    • Rojas, Samantha;
    • Choquet, Karine;
    • Majewski, Jacek;
    • Bernier, François;
    • Innes, Allan Micheil;
    • Rouleau, Guy;
    • Suchowersky, Oksana;
    • Boycott, Kym M.;
    • Yoon, Grace
    Publication type:
    Article
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    Live single-cell laser tag.

    Published in:
    Nature Communications, 2016, v. 7, n. 5, p. 11636, doi. 10.1038/ncomms11636
    By:
    • Binan, Loïc;
    • Mazzaferri, Javier;
    • Choquet, Karine;
    • Lorenzo, Louis-Etienne;
    • Wang, Yu Chang;
    • Affar, El Bachir;
    • De Koninck, Yves;
    • Ragoussis, Jiannis;
    • Kleinman, Claudia L.;
    • Costantino, Santiago
    Publication type:
    Article
    12

    Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

    Published in:
    Nature Communications, 2015, v. 6, n. 7, p. 7623, doi. 10.1038/ncomms8623
    By:
    • Thiffault, Isabelle;
    • Wolf, Nicole I.;
    • Forget, Diane;
    • Guerrero, Kether;
    • Tran, Luan T.;
    • Choquet, Karine;
    • Lavallée-Adam, Mathieu;
    • Poitras, Christian;
    • Brais, Bernard;
    • Yoon, Grace;
    • Sztriha, Laszlo;
    • Webster, Richard I.;
    • Timmann, Dagmar;
    • van de Warrenburg, Bart P.;
    • Seeger, Jürgen;
    • Zimmermann, Alíz;
    • Máté, Adrienn;
    • Goizet, Cyril;
    • Fung, Eva;
    • van der Knaap, Marjo S.
    Publication type:
    Article
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    Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.

    Published in:
    Molecular Brain, 2017, v. 10, p. 1, doi. 10.1186/s13041-017-0294-y
    By:
    • Choquet, Karine;
    • Sharon Yang;
    • Moir, Robyn D.;
    • Forget, Diane;
    • Larivière, Roxanne;
    • Bouchard, Annie;
    • Poitras, Christian;
    • Sgarioto, Nicolas;
    • Dicaire, Marie-Josée;
    • Noohi, Forough;
    • Kennedy, Timothy E.;
    • Rochford, Joseph;
    • Bernard, Geneviève;
    • Teichmann, Martin;
    • Coulombe, Benoit;
    • Willis, Ian M.;
    • Kleinman, Claudia L.;
    • Brais, Bernard
    Publication type:
    Article