Centre de recherche en myologie

• Article dans une revue

MYO7A is required for the functional integrity of the mechanoelectrical transduction complex in hair cells of the adult cochlea

Anna Underhill, Samuel Webb, Fiorella Grandi, Jing-Yi Jeng, Jacques de Monvel, Baptiste Plion, Adam Carlton, Ana Amariutei, Niovi Voulgari, Francesca de Faveri, Federico Ceriani, Mirna Mustapha, Stuart Johnson, Saaid Safieddine, Corné Kros, Walter Marcotti

Myosin-VIIA (MYO7A) is an unconventional myosin responsible for syndromic (Usher 1B) or nonsyndromic forms of deafness in humans when mutated. In the cochlea, MYO7A is expressed in hair cells, where it is believed to act as the motor protein tensioning the mechanoelectrical transducer (MET)…

Proceedings of the National Academy of Sciences of the United States of America, 2025, 122 (1), pp.e2414707122. ⟨10.1073/pnas.2414707122⟩. ⟨hal-04905455⟩

• Article dans une revue

273rd ENMC International workshop: Clinico-Sero-morphological classification of the Antisynthetase syndrome. Amsterdam, The Netherlands, 27-29 October 2023

Werner Stenzel, Andrew Mammen, Laure Gallay, Marie-Therese Holzer, Felix Kleefeld, Olivier Benveniste, Yves Allenbach, Yves Allenbach, Olivier Benveniste, Jan Damoiseaux, Sonye Danoff, Louise Diederichsen, David Fiorentino, Laure Gallay, Margherita Giannini, Marie-Therese Holzer, Felix Kleefeld, Lia Kolsters, Ingrid Lundberg, Andrew Mammen, Alain Meyer, Ioanna Minopulou, Corinna Preusse, Tobias Ruck, Jantima Tanboon, Sarah Tansley, Werner Stenzel, Yurdagul Uzunhan

Neuromuscular Disorders, 2024, 45, pp.104453. ⟨10.1016/j.nmd.2024.104453⟩. ⟨hal-04882419⟩

• Article dans une revue

L’actionnabilité clinique des gènes

Emmanuelle Pion, Gisèle Bonne, Antonio Atalaia, Emmanuelle Salort-Campana, Svetlana Gorokhova, Shahram Attarian, Mireille Cossée, Martin Krahn

High-throughput sequencing has introduced the concept of “actionable genes”. These genes are linked to diseases for which specific treatments or care exist. Accurate genetic diagnosis is therefore crucial for initiating interventions that can prevent or delay the progression of rare diseases. High-…, Le séquençage à haut débit a introduit le concept de « gènes actionnables ». Ces gènes sont liés à des pathologies pour lesquelles des traitements ou des prises en charge spécifiques existent. Un diagnostic génétique précis est donc crucial pour initier des interventions précoces qui peuvent…

Médecine/Sciences, 2024, 40, pp.6-8. ⟨10.1051/medsci/2024128⟩. ⟨hal-04790193⟩

• Article dans une revue

Inflammatory myopathies in 2024: Better classify them to better treat them

Olivier Benveniste

Revue Neurologique, 2024, 180 (9), pp.963-970. ⟨10.1016/j.neurol.2024.09.003⟩. ⟨hal-04882403⟩