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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El-Bazzal L, Ghata A, Estève C, et al. (2022) Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H. Brain : a Journal of Neurology
Vecten M, Pion E, Bartoli M, et al. (2022) Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care. International Journal of Molecular Sciences. 23
Abaji M, Gorokhova S, Da Silva N, et al. (2022) Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49. Genes. 13
Cerino M, González-Hormazábal P, Abaji M, et al. (2022) Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes. 13
Rochdi K, Cerino M, Da Silva N, et al. (2022) Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder. Clinica Chimica Acta; International Journal of Clinical Chemistry. 524: 51-58
Ballouhey O, Courrier S, Kergourlay V, et al. (2021) The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions. Frontiers in Cell and Developmental Biology. 9: 754555
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
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