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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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
Barthélémy F, Courrier S, Lévy N, et al. (2018) Dysferlin Exon 32 Skipping in Patient Cells. Methods in Molecular Biology (Clifton, N.J.). 1828: 489-496
Desvignes JP, Bartoli M, Delague V, et al. (2018) VarAFT: a variant annotation and filtration system for human next generation sequencing data. Nucleic Acids Research
Barthélémy F, Defour A, Lévy N, et al. (2018) Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet. Journal of Neuromuscular Diseases. 5: 21-28
Ben Yaou R, Hubert A, Nelson I, et al. (2017) Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. Neurology. Genetics. 3: e208
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