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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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
Gorokhov M, Cerino M, Mortreux J, et al. (2020) A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports. Scientific Reports. 10: 6247
Roche S, Dion C, Broucqsault N, et al. (2019) Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism. Neurology. Genetics. 5: e372
El-Bazzal L, Rihan K, Bernard-Marissal N, et al. (2019) Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1. Human Molecular Genetics
Dominov JA, Uyan Ö, McKenna-Yasek D, et al. (2019) Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Annals of Clinical and Translational Neurology. 6: 642-654
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