Pathologies neuromusculaires et physiopathologie : Publications / Awards

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Publications selectionées

Perrin A, Juntas Morales R, Rivier F, Cances C, Walther-Louvier U, Van Goethem C, Thèze C,  Lacourt D, Pégeot H, Zenagui R,   Uro-Coste E,  Leboucq N, Malfatti E,  Delaby C, Lehmann S, Rigau V, Koenig M, Cossée M. (2020)  The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies. Neuromuscul Disord 30:877-887.
DOI: 10.1016/j.nmd.2020.09.032  PMID: 33127292

Perrin A, Metay C, Villanova M, Carlier RY, Pegoraro E, Juntas Morales R, Stojkovic T, Richard I, Richard P, Romero NB, Granzier H, Koenig M, Malfatti E, Cossée M. (2020) A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency. Ann Clin Transl Neurol. 7:846-854
DOI: 10.1002/acn3.51031 . PMID: 32307885

Miro J, Bougé AL, Murauer E, Beyne E, Da Cunha D, Claustres M, Koenig M, Tuffery-Giraud S. (2020) First Identification of RNA-Binding Proteins that regulate alternative exons in the dystrophin gene. Int J Mol Sci. 21:E7803.
DOI: 10.3390/ijms21207803. PMID: 33096920

Wilson VD, Thomas C, Passerieux E, Hugon G, Pillard G, Andrade AG, Bommart S, Picot, MC, Pincemail, J, Mercier J, Arbogast S, Laoudj-Chenivesse D. (2018) Impaired oxygen demand during exercise is related to oxidative stress and muscle function in Facioscapulohumeral Muscular Dystrophy.
JCSM Rapid Communications.

El Haddad M, Notarnicola C, Evano B, El Khatib N, Blaquière M, Bonnieu A, Tajbakhsh S, Hugon G, Vernus B, Mercier J, Carnac G. (2017) Retinoic acid maintains human skeletal muscle progenitor cells in an immature state. Cell Mol Life Sci. 74(10):1923-1936.
DOI: 10.1007/s00018-016-2445-1 . PMID: 28025671