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Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Annoussamy M, Seferian AM, Daron A, et al.
Annals of clinical and translational neurology, 2020
Very low residual dystrophin quantity is associated with milder dystrophinopathy
de Feraudy Y, Yaou RB, Wahbi K, et al.
Annals of neurology, 2020
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
Audic F, De la Banda MGG, Bernoux D, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 148
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
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease
Mortreux J, Bacquet J, Boyer A, et al.
Journal of human genetics, 2019
Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Hafner P, Bonati U, Klein A, et al.
JAMA network open, 2019, 2, 10
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
Éthique et innovation thérapeutique
Laugel V, Herson A, Michon CC, et al.
médecine/sciences, 2019, 35, HS1, p 46
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
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.
Chabanon A, Seferian AM, Daron A, et al.
PLoS ONE, 2018, e0201004
Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis
Schmidt S, Hafner P, Klein A, et al.
Neuromuscular disorders : NMD, 2018, 28, 1, p 16
Le CERNEST : Centre de référence neuromusculaire du Grand Est : [Les cahiers de Myologie]
Echaniz-Laguna A, Tranchant C, Laugel V, et al.
Les Cahiers de Myologie, 2016, Vol.32, Hors série n°2, p.60-61
Diagnostic et histoire naturelle de la dystrophie musculaire de Duchenne : Diagnosis and natural history of Duchenne muscular dystrophy
Desguerre I, Laugel V
Archives de pédiatrie, 2015, 22, 12 S1, p 12S24
Non-Ambulant Duchenne Patients Theoretically treatable by Exon 53 Skipping have severe Phenotype
Servais L, Montus M, Le Guiner C, et al.
Journal of Neuromuscular Diseases, 2015, 2, 3, p 269
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
Cowling BS, Chevremont T, Prokic I, et al.
The Journal of clinical investigation, 2014, 124, 3, p 1350
Next generation sequencing for molecular diagnosis of neuromuscular diseases
Vasli N, Böhm J, Le Gras S, et al.
Acta neuropathologica, 2012, 124, 2, p. 273-283
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype
Vasli N, Laugel V, Böhm J, et al.
European journal of human genetics, 2012, 20, 6, p. 701-704
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
Toussaint A, Cowling BS, Hnia K, et al.
Acta neuropathologica, 2011, 121, 2, p 253
Diagnostic approach to neonatal hypotonia : retrospective study on 144 neonates
Laugel V, Cossée M, Matis J, et al.
European journal of pediatrics, 2008, 167, 5, p. 517-523
Asymptomatic dystrophinopathy caused by deletion of exon 48 (abstract : congrès international de Myologie, 2005)
Cossée M, de Saint-Martin A, Samimi S, et al.
Congrès : Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France)
2005, p. 223
