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Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency
Barcia G, Khirani S, Amaddeo A, et al.
Neuromuscular disorders : NMD, 2020, 30, 7, p 593
1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology : Amsterdam, The Netherlands, 7 December 2018
Udd B, Stenzel W, Oldfors A, et al.
Neuromuscular disorders : NMD, 2019, 29, 6, p 483
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene
Svahn J, Laforêt P, Vial C, et al.
Neuromuscular disorders : NMD, 2019, 29, 7, p 497
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
Dabaj I, Carlier RY, Gómez-Andrés D, et al.
Muscle & Nerve, 2018
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort
Carvalho AAS, Lacène E, Brochier G, et al.
Genetic testing and molecular biomarkers, 2018, 22, 6, p 374
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency
Kaphan E, Kaphan E, Bou Ali H, et al.
Revue neurologique, 2018, 174, 10, p 731
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy
Böhm J, Bulla M, Urquhart JE, et al.
Human mutation, 2017, 38, 4, p 426
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
Bauché S, Vellieux G, Sternberg D, et al.
Journal of neurology, 2017, 264, 8, p 1791
HyperCKemia and myalgia are a common presentation of Anoctamin-5 (ANO5)-related myopathy in French patients
Papadopoulos C, Laforêt P, Nectoux J, et al.
Muscle & Nerve, 2017, 56, 6, p 1096
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A
Mercier S, Lornage X, Malfatti E, et al.
Neurology, 2017, 88, 4, p 414
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Ben Yaou R, Hubert A, Nelson I, et al.
Neurology. Genetics, 2017, 3, 6
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
Fernandez-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, et al.
Neuromuscular disorders : NMD, 2017, 27, 2, p 188
Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy
Tard C, Tiffreau V, Jaillette E, et al.
Neuropediatrics, 2017, 48, 6, p 473
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Bauché S, O'Regan S, Azuma Y, et al.
American journal of human genetics, 2016, 99, 3, p 753
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution
Deconinck N, Richard P, Allamand V, et al.
Journal of neurology, neurosurgery, and psychiatry, 2015, 86, 12, p 1337
PABPN1 (GCN)11 as a dominant allele in Oculopharyngeal Muscular Dystrophy - Consequences in clinical diagnosis and genetic counselling
Richard P, Trollet C, Gidaro T, et al.
Journal of Neuromuscular Diseases, 2015, 2, 2, p 175
Myofibrillar myopathies: State of the art, present and future challenges
Behin A, Salort-Campana E, Wahbi K, et al.
Revue neurologique, 2015, 171, 10, p 715
Sporadic late-onset nemaline myopathy with MGUS : Long-term follow-up after melphalan and SCT
Voermans NC, Benveniste O, Minnema MC, et al.
Neurology, 2014, 83, 23, p 2133
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
Syndromes myasthéniques congénitaux : difficultés diagnostiques, évolution et prognostic, thérapeutique. L’expérience du réseau national «Syndromes myasthéniques congénitaux»
Eymard B, Stojkovic T, Sternberg D, et al.
Revue neurologique (Paris), 2013, 169, Suppl 1, p S45
Can phrenic stimulation protect the diaphragm from mechanical ventilation-induced damage?
Masmoudi H, Coirault C, Demoule A, et al.
The European respiratory journal, 2013, 42, 1, p 280
Miyoshi-like distal myopathy with mutations in anoctamin 5 gene
Bouquet F, Cossée M, Behin A, et al.
Revue neurologique (Paris), 2012, 168, 2, p. 135-141
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
An usual presentation of LGMD1C
Simon J, Krahn M, Schaeffer S, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 112
Congenital myasthenic syndromes: experience of the french network : Communication lors du 4th International Congress of Myology (4ème colloque international de Myologie) 9-13 mai 2011 Lille, France
Eymard B, Sternberg D, Richard P, et al.
2011, p 27
