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Asymmetric muscle weakness due to ACTA1 mosaic mutations
Lornage X, Quijano-Roy S, Amthor H, et al.
Neurology, 2020
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Marttila M, Lehtokari VL, Marston S, et al.
Human mutation, 2014, 35, 7, p 779
Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.
Romero NB, Xie T, Malfatti E, et al.
Journal of neurology, neurosurgery, and psychiatry, 2014, 85, 10, p 1149
Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum
Bharucha-Goebel DX, Santi M, Medne L, et al.
American Medical Association archives of neurology and psychiatry, 2013, 80, 17, p. 1584-1589
Exon skipping as a therapeutic strategy applied to a RyR1 mutation with pseudo-exon inclusion causing severe core myopathy
Rendu J, Brocard J, Denarier E, et al.
Human gene therapy, 2013, 24, 7, p. 702-713
Congenital myopathy with focal loss of cross-striations revisited
Voermans NC, Jungbluth H, Aronica E, et al.
Neuromuscular disorders : NMD, 2013, 23, 2, p. 160-164
An integrated diagnosis strategy for congenital myopathies
Böhm J, Vasli N, Malfatti E, et al.
PLoS ONE, 2013, 8, 6
Récepteur de la ryanodine et pathologies musculaires associées
Monnier N, Fauré J, Lunardi J
Les Cahiers de Myologie, 2012, 7, p. 25-35
Génétique des pathologies associées au récepteur de la ryanodine de type 1 (RYR1)
Lunardi J, Monnier N, Fauré J
Congrès : Xèmes Journées Annuelles de la Société française de Myologie (SFM) (14-16 novembre 2012; Grenoble (France))
2012, p. 18
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms
Ochala J, Gokhin DS, Pénisson-Besnier I, et al.
Human molecular genetics, 2012, 21, 20, p 4473
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene
Blandin G, Béroud C, Labelle V, et al.
Human mutation, 2012, 33, 3, p. E2317-E2331
Whole-body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations
Jarraya M, Quijano-Roy S, Monnier N, et al.
Neuromuscular disorders : NMD, 2012, 22, S2, p S137
Myopathies distales : à propos d'une étude rétrospective
Collectif, Franques J, Attarian S, et al.
Revue neurologique (Paris), 2012, 168, Supplt 1, p. S15
The neuronal endopeptidase ECEL1 is associated with autosomal recessive distal arthrogryposis
Dieterich K, Quijrano-Roy S, Monnier N, et al.
Congrès : Xèmes Journées Annuelles de la Société française de Myologie (SFM) (14-16 novembre 2012; Grenoble (France))
2012, p. 30
"Core-rod myopathy" non associé au gène RYR1 : Poster M8 présenté lors des IXèmes Journées Annuelles de la Société française de Myologie (SFM) 3-5 novembre 2011 Angers
Malfatti E, Taratuto AL, Monges S, et al.
2011, p 52
De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins
Hernandez-Lain A, Husson I, Monnier N, et al.
European journal of medical genetics, 2011, 54, 1, p 29
Exon skipping apply to structural myopathy with core
Rendu J, Fourest-Lieuvin A, Brocard J, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 89
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalisation and large areas of myofibrillar disorganisation
Bevilacqua JA, Monnier N, Bitoun M, et al.
Neuropathology and applied neurobiology, 2011, 37, 3, p 271
Pathological RYR1 mutations to identify RYR1 functional domains (poster)
Cacheux M, Fauré J, Brocard J, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 63
The calcium release complex during fetal human skeletal muscle development : possible implications in congenital myopathies and arthrogryposis
Dieterich K, Fabre B, Lallemand G, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 64
Whole-body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations
Jarraya M, Quijano-Roy S, Behin A, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 64-65
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3
Waddell LB, Kreissl M, Kornberg A, et al.
Neuromuscular disorders : NMD, 2010, 20, 7, p. 464-466
Core-rod myopathy caused by mutations in the nebulin gene
Romero NB, Lehtokari VL, Quijano-Roy S, et al.
Neurology, 2009, 73, 14, p 1159
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database : a model of nationwide knowledgebase
Tuffery-Giraud S, Béroud C, Leturcq F, et al.
Human mutation, 2009, 30, 6, p. 934-945
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)
Laing NG, Dye DE, Wallgren-Pettersson C, et al.
Human mutation, 2009, 30, 9, p. 1267-1277
