Search Results - Marc Bartoli

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  1. 1

    System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution by Ozan Ozisik, Svetlana Gorokhova, Mathieu Cerino, Marc Bartoli, Anaïs Baudot

    Published in Scientific Reports (2024-05-01)
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  2. 2

    Editorial: Personalized medicine for neuromuscular disorders by Marc Bartoli, Rachel M. Bailey, Rachel M. Bailey, Kathrin Meyer, Kathrin Meyer, Florian Barthélémy, Florian Barthélémy

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  3. 3

    A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy by Océane Ballouhey, Marie Chapoton, Benedicte Alary, Sébastien Courrier, Nathalie Da Silva, Martin Krahn, Nicolas Lévy, Noah Weisleder, Marc Bartoli

    Published in Biomedicines (2023-05-01)
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  4. 4

    Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy by Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Lévy, Martin Krahn, Brigitte Chabrol

    Published in Molecular Genetics & Genomic Medicine (2020-08-01)
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  5. 5

    Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1 by Rémi Bos, Khalil Rihan, Patrice Quintana, Lara El-Bazzal, Nathalie Bernard-Marissal, Nathalie Da Silva, Rosette Jabbour, André Mégarbané, Marc Bartoli, Frédéric Brocard, Valérie Delague

    Published in Neurobiology of Disease (2022-03-01)
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  6. 6

    Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. by Nathalie Caruso, Balàzs Herberth, Marc Bartoli, Francesca Puppo, Julie Dumonceaux, Angela Zimmermann, Simon Denadai, Marie Lebossé, Stephane Roche, Linda Geng, Frederique Magdinier, Shahram Attarian, Rafaelle Bernard, Flavio Maina, Nicolas Levy, Françoise Helmbacher

    Published in PLoS Genetics (2013-06-01)
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