Personnel

Maud Beuvin

Ingénieure d'études

Maud Beuvin
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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

  1. 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.
  2. 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 .
  3. 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.
  4. 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.
  5. 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 .
  6. 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.
  7. 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.
  8. 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.
  9. 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 .
  10. 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 .
  11. 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.
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