Isabelle Richard
Affiliations: | 2001-2008 | Genethon |
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| Albini S, Palmieri L, Dubois A, et al. (2023) Assessment of Therapeutic Potential of a Dual AAV Approach for Duchenne Muscular Dystrophy. International Journal of Molecular Sciences. 24 |
| 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 |
| Thiruvengadam G, Sreetama SC, Charton K, et al. (2021) Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits. Journal of Neuromuscular Diseases |
| Villar Quiles RN, Richard I, Bouchet-Seraphin C, et al. (2020) [Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives]. Medecine Sciences : M/S. 36: 28-33 |
| Fernández-Eulate G, Leturcq F, Laforêt P, et al. (2020) [Sarcoglycanopathies: state of the art and therapeutic perspectives]. Medecine Sciences : M/S. 36: 22-27 |
| Sarparanta J, Vihola A, Singh R, et al. (2019) P.138C-terminal titin fragments in mouse muscles Neuromuscular Disorders. 29 |
| Henriques SF, Patissier C, Bourg N, et al. (2018) Different outcome of sarcoglycan missense mutation between human and mouse. Plos One. 13: e0191274 |
| Gicquel E, Maizonnier N, Foltz SJ, et al. (2017) Aav-Mediated Transfer of Fkrp Shows Therapeutic Efficacy In a Murine Model But Requires Control of Gene Expression. Human Molecular Genetics |
| Hackman P, Savarese M, Bönneman C, et al. (2017) P.480 - Establishment of an international database of Titin mutations and their phenotypes – a follow up: 22nd International Congress of the World Muscle Society Neuromuscular Disorders. 27 |
| Böhm J, Schneider R, Malfatti E, et al. (2017) P.327 - Integrated analysis of the large-scale sequencing project “Myocapture” to identify novel genes for myopathies Neuromuscular Disorders. 27 |