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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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
Nguyen K, Puppo F, Roche S, et al. (2017) Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral Dystrophy. Human Mutation
Cerino M, Gorokhova S, Laforet P, et al. (2017) Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencing. Muscle & Nerve
Matagne V, Ehinger Y, Saidi L, et al. (2016) A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome. Neurobiology of Disease. 99: 1-11
Gaillard MC, Puppo F, Roche S, et al. (2016) Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. Bmc Medical Genetics. 17: 66
Lacoste C, Desvignes JP, Salgado D, et al. (2016) Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton. Journal of Genetics. 95: 203-8
LACOSTE C, DESVIGNES JP, SALGADO D, et al. (2016) Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton Journal of Genetics. 1-6
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