Marc Bartoli

Affiliations: 
1999-2001 Harvard Medical School, Boston, MA, United States 
 2001-2008 Genethon 
 2008-2010 Aix Marseille University 
 2010- Myologie Translationnelle CNRS, Paris, Île-de-France, France 
Area:
human genetics, myology
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"Marc Bartoli"
Mean distance: 15.58 (cluster 32)
 
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Publications

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Khaoula R, Cerino M, Da Silva N, et al. (2021) First characterization of congenital myasthenic syndrome type 5 in North Africa. Molecular Biology Reports
Charnay T, Blanck V, Cerino M, et al. (2021) Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Salvi A, Maues De Paula A, Lévy N, et al. (2021) Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca Entry Units in Aged Muscle. Frontiers in Physiology. 12: 663677
Salvi A, Skrypnyk C, Da Silva N, et al. (2021) A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. Clinical Genetics
Cerino M, Bartoli M, Riccardi F, et al. (2020) Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy. Annals of Clinical and Translational Neurology
Cerino M, Salort-Campana E, Gorokhova S, et al. (2020) Refining NGS diagnosis of muscular disorders. Journal of Neurology, Neurosurgery, and Psychiatry
Dionnet E, Defour A, Da Silva N, et al. (2020) Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. Human Mutation
Cerino M, Di Meglio C, Albertini F, et al. (2020) Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. Molecular Genetics & Genomic Medicine. e1277
Ballouhey O, Bartoli M, Levy N. (2020) [CRISPR-Cas9 for muscle dystrophies]. Medecine Sciences : M/S. 36: 358-366
Cerino M, Campana-Salort E, Salvi A, et al. (2020) Novel CAPN3 variant associated with an autosomal dominant calpainopathy. Neuropathology and Applied Neurobiology
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