Maud Beuvin
Assistante de laboratoire
Titres
Assistante de Laboratoire
Expertises
- Histologie
- Immunohistologie
- Western-Blot
Présentation
Thématiques d’intérêt : dans le cadre de l’identification de nouveaux gènes impliqués dans les maladies neuromusculaires, je réalise des caractérisations histologiques des muscles des patients et des modèles animaux.
Principales publications
- Piekarowicz, K, Bertrand, AT, Azibani, F, Beuvin, M, Julien, L, Machowska, M et al.. A Muscle Hybrid Promoter as a Novel Tool for Gene Therapy. Mol Ther Methods Clin Dev. 2019;15 :157-169. doi: 10.1016/j.omtm.2019.09.001. PubMed PMID:31660418 PubMed Central PMC6807297.
- Kammoun, M, Piquereau, J, Nadal-Desbarats, L, Même, S, Beuvin, M, Bonne, G et al.. Novel role of Tieg1 in muscle metabolism and mitochondrial oxidative capacities. Acta Physiol (Oxf). 2020;228 (3):e13394. doi: 10.1111/apha.13394. PubMed PMID:31560161 .
- De Ridder, W, Nelson, I, Asselbergh, B, De Paepe, B, Beuvin, M, Ben Yaou, R et al.. Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES. Neurol Genet. 2019;5 (2):e321. doi: 10.1212/NXG.0000000000000321. PubMed PMID:31119192 PubMed Central PMC6501641.
- Garibaldi, M, Rendu, J, Brocard, J, Lacene, E, Fauré, J, Brochier, G et al.. 'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. Acta Neuropathol Commun. 2019;7 (1):3. doi: 10.1186/s40478-018-0655-5. PubMed PMID:30611313 PubMed Central PMC6320585.
- Ávila-Polo, R, Malfatti, E, Lornage, X, Cheraud, C, Nelson, I, Nectoux, J et al.. Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. J Neuropathol Exp Neurol. 2018;77 (12):1101-1114. doi: 10.1093/jnen/nly095. PubMed PMID:30365001 .
- Le Dinh, M, Carreira, S, Obert, J, Gayan-Ramirez, G, Riou, B, Beuvin, M et al.. Prolonged mechanical ventilation worsens sepsis-induced diaphragmatic dysfunction in the rat. PLoS One. 2018;13 (8):e0200429. doi: 10.1371/journal.pone.0200429. PubMed PMID:30067847 PubMed Central PMC6070213.
- Azibani, F, Brull, A, Arandel, L, Beuvin, M, Nelson, I, Jollet, A et al.. Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy. Mol Ther Nucleic Acids. 2018;10 :376-386. doi: 10.1016/j.omtn.2017.12.012. PubMed PMID:29499949 PubMed Central PMC5862133.
- Ben Yaou, R, Hubert, A, Nelson, I, Dahlqvist, JR, Gaist, D, Streichenberger, N et al.. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. Neurol Genet. 2017;3 (6):e208. doi: 10.1212/NXG.0000000000000208. PubMed PMID:29264399 PubMed Central PMC5735306.
- Schartner, V, Romero, NB, Donkervoort, S, Treves, S, Munot, P, Pierson, TM et al.. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropathol. 2017;133 (4):517-533. doi: 10.1007/s00401-016-1656-8. PubMed PMID:28012042 .
- Ziat, E, Mamchaoui, K, Beuvin, M, Nelson, I, Azibani, F, Spuler, S et al.. FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy. J Neuromuscul Dis. 2016;3 (4):497-510. doi: 10.3233/JND-160169. PubMed PMID:27911330 .
- Anthony, K, Arechavala-Gomeza, V, Taylor, LE, Vulin, A, Kaminoh, Y, Torelli, S et al.. Dystrophin quantification: Biological and translational research implications. Neurology. 2014;83 (22):2062-9. doi: 10.1212/WNL.0000000000001025. PubMed PMID:25355828 PubMed Central PMC4248450.