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Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports
Hully M, Barnerias C, Chabalier D, et al.
Frontiers in pediatrics, 2020, 8, 4
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series
Villar-Quiles RN, von der Hagen M, Metay C, et al.
Neurology, 2020, 95, 11
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
X-linked myotubular myopathy: A prospective international natural history study
Annoussamy M, Lilien C, Gidaro T, et al.
Neurology, 2019, 92, 16
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Lagrue E, Dogan C, De Antonio M, et al.
Neurology, 2019, 92, 8, p 852
A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus
Barateau A, Vadrot N, Vicart P, et al.
PLoS ONE, 2017, 12, 1
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
Table ronde - Congrès 2015
Gonnaud PM, Arndt-Vankemmel F, Caussé Benoit, et al.
CMTmag, 2016, 102, p 4
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms
Marey I, Ben Yaou R, Deburgrave N, et al.
Journal of Neuromuscular Diseases, 2016, 3, 2, p 227
Principes de prise en charge multidisciplinaire des dystrophies musculaires de Duchenne : Principles of multidisciplinary management of Duchenne muscular dystrophy
Chabrol B, Mayer M
Archives de pédiatrie, 2015, 22, 12 S1, p 12S69
Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial
Seferian AM, Moraux A, Annoussamy M, et al.
PLoS ONE, 2015, 10, 2
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial
Seferian AM, Moraux A, Canal A, et al.
PLoS ONE, 2015, 10, 4
Amyotrophie spinale type 1 : enquête multicentrique des pratiques de soins et d'accompagnement palliatif sur deux périodes successives de 10 ans : Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods
Barnerias C, Quijano S, Mayer M, et al.
Archives de pédiatrie, 2014, 21, 4, p 347
Maladies neuromusculaires : le passage de l'enfance à l'âge adulte
Mayer M
Les Cahiers de Myologie, 2014, 10, p. 13-14
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
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors
Bertrand AT, Ziaei S, Ehret C, et al.
Journal of cell science, 2014, 127, 13, p 2873
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients
Servais L, Deconinck N, Moraux A, et al.
Neuromuscular disorders : NMD, 2013, 23, 2, p 139
"Myosite" et LGMD2I : association fortuite ou phénotype particulier ?
Rivier F, Urtizberea JA, Mayer M, et al.
Les Cahiers de Myologie, 2012, 6, p. 15-17
Nocturnal hypoxemia and hypercapnia in children with neuromuscular disorders
Bersanini C, Khirani S, Ramirez A, et al.
European respiratory journal, 2012, 39, 5, p. 1206-1212
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients
Servais L, Deconinck N, Moraux A, et al.
Neuromuscular disorders : NMD, 2012, 23, 2, p. 139-148
Grossesse et maternité dans les MNM : un accompagnement médico-social exigeant
Eymard B, Mayer M
Les Cahiers de Myologie, 2011, 5, p. 23-24
Natural evolution of weight status in Duchenne muscular dystrophy : a retrospective audit
Martigne L, Salleron J, Mayer M, et al.
British journal of nutrition, 2011, 105, 10, p. 1468-1491
Upper limb evaluation in non-ambulatory patients with neuromuscular disorders
Hogrel JY, Benali M, Canal A, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 137-138
Early onset collagen VI myopathies: genetic and clinical correlations
Brinas L, Richard P, Quijano-Roy S, et al.
Annals of neurology, 2010, 68, 4, p 511
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
Susman RD, Quijano-Roy S, Yang N, et al.
Neuromuscular disorders : NMD, 2010, 20, 4, p 229
