Madame Alexandra SALVI / Docteur

Production scientifique

• Novel CAPN3 variant associated with an autosomal dominant calpainopathy
  Neuropathology and Applied Neurobiology, 2020
  Cerino M, Campana-Salort E, Salvi A, Cintas P, Renard D, Juntas Morales R, Tard C, Leturcq F, Stojkovic T, Bonello-Palot N, Gorokhova S, Mortreux J, Maues De Paula A, Lévy N, Pouget J, Cossée M, Bartoli M, Krahn M & Attarian S.
  10.1111/nan.12624
  
• Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay
  Human Mutation, 2020
  Eugénie Dionnet, Aurélia Defour, Nathalie da Silva, Alexandra Salvi, Nicolas Levy, Martin Krahn, Marc Bartoli, Francesca Puppo, Svetlana Gorokhova
  https://hal-amu.archives-ouvertes.fr/hal-02959280/document
  
• Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.
  Annals of clinical and translational neurology, 2020
  Cerino M, Bartoli M, Riccardi F, Le Goanvic B, Blanck V, Salvi A, Lévy N, Krahn M & Choumert A
  10.1002/acn3.51193.
  
• Commentary : Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle
  Frontiers in Physiology, 2021
  Alexandra Salvi, André Maues De Paula, Nicolas Lévy, Shahram Attarian, Marc Bartoli
  
  
• A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases
  Clinical Genetics, 2021
  Alexandra Salvi, Cristina Skrypnyk, Nathalie Da Silva, J. Andoni Urtizberea, Moiz Bakhiet, Catherine Robert, Nicolas Lévy, Andre Megarbané, Valerie Delague, Marc Bartoli