Works by Bernard, Geneviève

Results: 67
    1

    Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans.

    Published in:
    PLoS Biology, 2012, v. 10, n. 3, p. 1, doi. 10.1371/journal.pbio.1001288
    By:
    • Bayat, Vafa;
    • Thiffault, Isabelle;
    • Jaiswal, Manish;
    • Tétreault, Martine;
    • Donti, Taraka;
    • Sasarman, Florin;
    • Bernard, Geneviève;
    • Demers-Lamarche, Julie;
    • Dicaire, Marie-Josée;
    • Mathieu, Jean;
    • Vanasse, Michel;
    • Bouchard, Jean-Pierre;
    • Rioux, Marie-France;
    • Lourenco, Charles M.;
    • Zhihong Li;
    • Haueter, Claire;
    • Shoubridge, Eric A.;
    • Graham, Brett H.;
    • Brais, Bernard;
    • Bellen, Hugo J.
    Publication type:
    Article
    2
    3
    4
    5
    6
    7

    Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9
    By:
    • Gutierrez, Mariana;
    • Thiffault, Isabelle;
    • Guerrero, Kether;
    • Martos-Moreno, Gabriel Á.;
    • Tran, Luan T.;
    • Benko, William;
    • van der Knaap, Marjo S.;
    • van Spaendonk, Rosalina M. L.;
    • Wolf, Nicole I.;
    • Bernard, Geneviève
    Publication type:
    Article
    8

    Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9
    By:
    • Gutierrez, Mariana;
    • Thiffault, Isabelle;
    • Guerrero, Kether;
    • Martos-Moreno, Gabriel Á.;
    • Tran, Luan T.;
    • Benko, William;
    • van der Knaap, Marjo S.;
    • van Spaendonk, Rosalina M. L.;
    • Wolf, Nicole I.;
    • Bernard, Geneviève
    Publication type:
    Article
    9
    10
    11

    Whole exome sequencing in patients with white matter abnormalities.

    Published in:
    2016
    By:
    • Vanderver, Adeline;
    • Simons, Cas;
    • Helman, Guy;
    • Crawford, Joanna;
    • Wolf, Nicole I.;
    • Bernard, Geneviève;
    • Pizzino, Amy;
    • Schmidt, Johanna L.;
    • Takanohashi, Asako;
    • Miller, David;
    • Khouzam, Amirah;
    • Rajan, Vani;
    • Ramos, Erica;
    • Chowdhury, Shimul;
    • Hambuch, Tina;
    • Ru, Kelin;
    • Baillie, Gregory J.;
    • Grimmond, Sean M.;
    • Caldovic, Ljubica;
    • Devaney, Joseph
    Publication type:
    journal article
    12

    Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.

    Published in:
    BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03354-9
    By:
    • Schoenmakers, Daphne H.;
    • Leferink, Prisca S.;
    • Vanderver, Adeline;
    • Bonkowsky, Joshua L.;
    • Krägeloh-Mann, Ingeborg;
    • Bernard, Geneviève;
    • Bertini, Enrico;
    • Fatemi, Ali;
    • Fogel, Brent L.;
    • Wolf, Nicole I.;
    • Skwirut, Donna;
    • Buck, Allyson;
    • Holberg, Brett;
    • Saunier-Vivar, Elise F.;
    • Rauner, Robert;
    • Dekker, Hanka;
    • van Bokhoven, Pieter;
    • Stellingwerff, Menno D.;
    • Berkhof, Johannes;
    • van der Knaap, Marjo S.
    Publication type:
    Article
    13

    Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy.

    Published in:
    Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8807171
    By:
    • Perrier, Stefanie;
    • Macintosh, Julia;
    • Misiaszek, Agata D.;
    • Lambert, Gabrielle;
    • Guerrero, Kether;
    • Tran, Luan T.;
    • Müller, Christoph W.;
    • Pastinen, Tomi;
    • Maegawa, Gustavo H. B.;
    • Thiffault, Isabelle;
    • Bernard, Geneviève;
    • Oetting, William
    Publication type:
    Article
    14
    15

    POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia.

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 11, p. 3303, doi. 10.1111/epi.18115
    By:
    • Symonds, Joseph D.;
    • Park, Kristen L.;
    • Mignot, Cyril;
    • Macleod, Stewart;
    • Armstrong, Martin;
    • Ashrafian, Houman;
    • Bernard, Geneviève;
    • Brown, Kathleen;
    • Brunklaus, Andreas;
    • Callaghan, Mary;
    • Classen, Georg;
    • Cohen, Julie S.;
    • Cutcutache, Ioana;
    • de Sainte Agathe, Jean‐Madeleine;
    • Dyment, David;
    • Elliot, Katherine S.;
    • Isapof, Arnaud;
    • Joss, Shelagh;
    • Keren, Boris;
    • Marble, Michael
    Publication type:
    Article
    16
    17
    18
    19
    20
    21
    22
    23
    24
    25
    26
    27

    POLR3A variants in hereditary spastic paraplegia and ataxia.

    Published in:
    2018
    By:
    • Gauquelin, Laurence;
    • Tétreault, Martine;
    • Thiffault, Isabelle;
    • Farrow, Emily;
    • Miller, Neil;
    • Yoo, Byunggil;
    • Bareke, Eric;
    • Yoon, Grace;
    • Suchowersky, Oksana;
    • Dupré, Nicolas;
    • Tarnopolsky, Mark;
    • Brais, Bernard;
    • Wolf, Nicole I.;
    • Majewski, Jacek;
    • Rouleau, Guy A.;
    • Gan-Or, Ziv;
    • Bernard, Geneviève
    Publication type:
    Letter
    28
    29
    30
    31
    32
    33
    34

    Dystonia in RNA Polymerase III‐Related Leukodystrophy.

    Published in:
    Movement Disorders Clinical Practice, 2019, v. 6, n. 2, p. 155, doi. 10.1002/mdc3.12715
    By:
    • Al Yazidi, Ghalia;
    • Tran, Luan T.;
    • Guerrero, Kether;
    • Vanderver, Adeline;
    • Schiffmann, Raphael;
    • Wolf, Nicole I.;
    • Chouinard, Sylvain;
    • Bernard, Geneviève
    Publication type:
    Article
    35

    Altered PLP1 splicing causes hypomyelination of early myelinating structures.

    Published in:
    Annals of Clinical & Translational Neurology, 2015, v. 2, n. 6, p. 648, doi. 10.1002/acn3.203
    By:
    • Kevelam, Sietske H.;
    • Taube, Jennifer R.;
    • Spaendonk, Rosalina M. L.;
    • Bertini, Enrico;
    • Sperle, Karen;
    • Tarnopolsky, Mark;
    • Tonduti, Davide;
    • Valente, Enza Maria;
    • Travaglini, Lorena;
    • Sistermans, Erik A.;
    • Bernard, Geneviève;
    • Catsman ‐ Berrevoets, Coriene E.;
    • Karnebeek, Clara D. M.;
    • Østergaard, John R.;
    • Friederich, Richard L.;
    • Fawzi Elsaid, Mahmoud;
    • Schieving, Jolanda H.;
    • Tarailo ‐ Graovac, Maja;
    • Orcesi, Simona;
    • Steenweg, Marjan E.
    Publication type:
    Article
    36

    Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

    Published in:
    Journal of Child Neurology, 2025, v. 40, n. 1, p. 26, doi. 10.1177/08830738241283171
    By:
    • Lentini, Laura;
    • Toutounchi, Helia;
    • Chapleau, Alexandra;
    • Le, Adam;
    • Fournier, Simon;
    • Emari, Fatemeh;
    • Flamini, Robert;
    • Rossi, Andrea;
    • Gentile, Angela;
    • Bertini, Enrico;
    • Nicita, Francesco;
    • Pohl, Daniela;
    • Venkateswaran, Sunita;
    • Keller, Stephanie;
    • Rossignol, Elsa;
    • Renaud, Deborah;
    • Assis Pereira, Danilo De;
    • Chen, Xiaoru;
    • Vanderver, Adeline;
    • Bernard, Geneviève
    Publication type:
    Article
    37

    Gross Motor Function in Pediatric Onset TUBB4A -Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.

    Published in:
    Journal of Child Neurology, 2023, v. 38, n. 8/9, p. 498, doi. 10.1177/08830738231188159
    By:
    • Gavazzi, Francesco;
    • Patel, Virali;
    • Charsar, Brittany;
    • Glanzman, Allan;
    • Erler, Jacqueline;
    • Sevagamoorthy, Anjana;
    • McKenzie, Emma;
    • Kornafel, Tracy;
    • Ballance, Elizabeth;
    • Pierce, Samuel R.;
    • Teng, Michelle;
    • Formanowski, Brielle;
    • Woidill, Sarah;
    • Shults, Justine;
    • Wassmer, Evangeline;
    • Tonduti, Davide;
    • Magrinelli, Francesca;
    • Bernard, Geneviève;
    • Van Der Knaap, Marjo;
    • Wolf, Nicole
    Publication type:
    Article
    38

    The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.

    Published in:
    Journal of Child Neurology, 2023, v. 38, n. 5, p. 329, doi. 10.1177/08830738231176672
    By:
    • Yazdani, Pouneh Amir;
    • St-Jean, Marie-Lou;
    • Matovic, Sara;
    • Spahr, Aaron;
    • Tran, Luan T.;
    • Boucher, Renée-Myriam;
    • Poulin, Chantal;
    • Osterman, Bradley;
    • Srour, Myriam;
    • Rosenblatt, Bernard;
    • Chénier, Sébastien;
    • Soucy, Jean-Francois;
    • Laberge, Anne-Marie;
    • D'Agostino, Maria Daniela;
    • Nguyen, Cam-Tu Emilie;
    • Morsa, Maxime;
    • Bernard, Geneviève
    Publication type:
    Article
    39

    Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.

    Published in:
    Journal of Child Neurology, 2022, v. 37, n. 4, p. 237, doi. 10.1177/08830738211065317
    By:
    • Amir Yazdani, Pouneh;
    • St-Jean, Marie-Lou;
    • Matovic, Sara;
    • Spahr, Aaron;
    • Tran, Luan T.;
    • Boucher, Renée-Myriam;
    • Poulin, Chantal;
    • Osterman, Bradley;
    • Srour, Myriam;
    • Rosenblatt, Bernard;
    • Chenier, Sébastien;
    • Soucy, Jean-Francois;
    • Laberge, Anne-Marie;
    • Braverman, Nancy;
    • D'Agostino, Maria Daniela;
    • Nguyen, Cam-Tu Emilie;
    • Morsa, Maxime;
    • Bernard, Geneviève
    Publication type:
    Article
    40
    41
    42
    43

    Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.

    Published in:
    Metabolites (2218-1989), 2022, v. 12, n. 3, p. 262, doi. 10.3390/metabo12030262
    By:
    • Ghaleb, Youmna;
    • Elbitar, Sandy;
    • Philippi, Anne;
    • El Khoury, Petra;
    • Azar, Yara;
    • Andrianirina, Miangaly;
    • Loste, Alexia;
    • Abou-Khalil, Yara;
    • Nicolas, Gaël;
    • Le Borgne, Marie;
    • Moulin, Philippe;
    • Di-Filippo, Mathilde;
    • Charrière, Sybil;
    • Farnier, Michel;
    • Yelnick, Cécile;
    • Carreau, Valérie;
    • Ferrières, Jean;
    • Lecerf, Jean-Michel;
    • Derksen, Alexa;
    • Bernard, Geneviève
    Publication type:
    Article
    44
    45
    46
    47
    48
    49
    50

    LINGO1 Variants in the French-Canadian Population.

    Published in:
    PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016254
    By:
    • Bourassa, Cynthia V.;
    • Rivière, Jean-Baptiste;
    • Dion, Patrick A.;
    • Bernard, Geneviève;
    • Diab, Sabrina;
    • Panisset, Michel;
    • Chouinard, Sylvain;
    • Dupré, Nicolas;
    • Fournier, Hélène;
    • Raelson, John;
    • Belouchi, Majid;
    • Rouleau, Guy A.
    Publication type:
    Article