Publications



1719 documents

  • A. Merlet, E. Lacène, I. Nelson, G. Brochier, C. Labasse, et al.. P338 Clinical, morphological, and proteomic features of patients suspected of X-linked myopathy with excessive autophagy (XMEA). 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S99, ⟨10.1016/j.nmd.2023.07.136⟩. ⟨hal-04280238⟩
  • M. Okubo, A. Brull, M. Beuvin, N. Mougenot, V. Paradis, et al.. O03 In vivo gene therapy for striated muscle laminopathy. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S67, ⟨10.1016/j.nmd.2023.07.018⟩. ⟨hal-04280254⟩
  • J. de Winter, L. van de Vondel, Gisèle Bonne, T. Stojkovic, S. Elouej, et al.. P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S139, ⟨10.1016/j.nmd.2023.07.290⟩. ⟨hal-04280233⟩
  • M Gomez Garcia, R. Garcia-Uzquiano, L. Le Goff, V. Manel, I. Dabaj, et al.. P431 Steroid treatment may change natural history in congenital laminopathies. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S160, ⟨10.1016/j.nmd.2023.07.372⟩. ⟨hal-04280227⟩
  • V. Decostre, C. Chikhaoui, C. Vigouroux, A. Behin, G. Bassez, et al.. VP429 Impaired skeletal muscle strength in adult patients with laminopathies. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S159-S160, ⟨10.1016/j.nmd.2023.07.370⟩. ⟨hal-04280272⟩
  • L. Benarroch, I. Nelson, T. Stojkovic, B Mohand Oumoussa, H. Madry, et al.. P166 Deciphering the genetic cause of oculopharyngodistal myopathy in a French cohort using Cas9-targeted long-read sequencing. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S141, ⟨10.1016/j.nmd.2023.07.298⟩. ⟨hal-04280249⟩
  • L. Benarroch, J. Madsen-Østerbye, M. Abdelhalim, K. Mamchaoui, J. Ohana, et al.. A robust and practical myogenic system to explore cellular and genomic features of muscle differentiation. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S158, ⟨10.1016/j.nmd.2023.07.363⟩. ⟨hal-04280205⟩
  • A. Atalaia, R. Thompson, L. Matalonga, C. Hernandez-Ferrer, A. Corvo, et al.. P192 The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect's GPAP and other clinical diagnosis support tools. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S142, ⟨10.1016/j.nmd.2023.07.301⟩. ⟨hal-04280259⟩
  • Gisèle Bonne, Martin Krahn. Concept de gènes actionnables et application dans le domaine neuromusculaire.. 25èmes Journées Neuromusculaires de Marseille, Sep 2023, Marseille, France. ⟨hal-04189737⟩
  • Gisèle Bonne. Insights in the pathophysiological mechanisms of striated muscle Laminopathies. Ottawa NMD 2023 Conference, Sep 2023, Ottawa, Canada. ⟨hal-04189748⟩

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