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, myologyGoogle:
"Marc Bartoli"Mean distance: 15.58 (cluster 32) | S | N | B | C | P |
Parents
Sign in to add mentor| Ariane Monneron | grad student | 1994-1999 | Aix Marseille University |
| Jonathan B. Cohen | post-doc | 1999-2001 | Harvard Medical School |
| Isabelle Richard | research scientist | 2002-2008 | Genethon |
| Nicolas Lévy | research scientist | 2008-2010 | Aix Marseille University |
Children
Sign in to add trainee| Florian Barthélémy | grad student | 2009-2013 | AIx-Marseille Universités |
| Virginie Kergourlay | grad student | 2010-2014 | Aix Marseille University |
| André Maues de Paula | grad student | 2010-2015 | Aix Marseille Université |
| Eugenie Dionnet | grad student | 2010-2016 | Aix Marseille Université |
| Julie soulie Warnez | grad student | 2015-2018 | Aix Marseille Université |
| Francesca Puppo | post-doc | 2011- | Aix Marseille University |
| Yves Mathieu | post-doc | 2012-2014 | Aix Marseille Université |
Collaborators
Sign in to add collaborator| Nicolas Lévy | collaborator | 2010- | Université Aix-Marseille, INSERM U1251 |
BETA: Related publications
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Publications
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| Alary B, Cintas P, Claude C, et al. (2024) Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation. Clinical Immunology (Orlando, Fla.). 265: 110306 |
| Ozisik O, Gorokhova S, Cerino M, et al. (2024) System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution. Scientific Reports. 14: 11225 |
| Bartoli M, Bailey RM, Meyer K, et al. (2023) Editorial: Personalized medicine for neuromuscular disorders. Frontiers in Cell and Developmental Biology. 11: 1329048 |
| Ballouhey O, Chapoton M, Alary B, et al. (2023) A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy. Biomedicines. 11 |
| 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 |