Nicolas Lévy
Affiliations: | 2009- | Aix Marseille University |
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"Nicolas Lévy"Mean distance: 106866
Children
Sign in to add trainee| Valérie Delague | research scientist | Aix Marseille University | |
| Marc Bartoli | research scientist | 2008-2010 | Aix Marseille University |
Collaborators
Sign in to add collaborator| Stéphane Zaffran | collaborator | 2009- | Université Aix-Marseille |
| Marc Bartoli | collaborator | 2010- | Université Aix-Marseille, INSERM U1251 |
| Heather C. Etchevers | collaborator | 2010-2021 | Université Aix-Marseille |
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Publications
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| Saadi A, Navarro C, Ozalp O, et al. (2023) A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities. American Journal of Medical Genetics. Part A |
| 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 |
| Morel V, Campana-Salort E, Boyer A, et al. (2022) HINT1 Neuropathy: expanding the genotype and phenotype spectrum. Clinical Genetics |
| 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 |
| Harhouri K, Cau P, Casey F, et al. (2022) MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells. Cells. 11 |
| Varlet AA, Desgrouas C, Jebane C, et al. (2021) A Rare Mutation in Associated with Lipodystrophy Drives Premature Cell Senescence. Cells. 11 |
| 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 |