Détail de l'auteur
Documents disponibles écrits par cet auteur (73)
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) | Mettre toutes les notices dans le panier | Faire une suggestion | Ajouter un critère de recherche
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
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
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
Intérêt des traitements pharmacologiques symptomatiques des maladies neuromusculaires de l'enfant : Prise en charge
Cuisset JM, Hamain A, Binoche A, et al.
Les Cahiers de Myologie, 2017, 15, p. 30-36
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
Lornage X, Malfatti E, Chéraud C, et al.
Annals of neurology, 2017, 81, 3, p 467
Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy
Tard C, Tiffreau V, Jaillette E, et al.
Neuropediatrics, 2017, 48, 6, p 473
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy
Buyse GM, Voit T, Schara U, et al.
Pediatric pulmonology, 2017, 52, 4, p 508
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy.
Buyse GM, Voit T, Schara U, et al.
Pediatric pulmonology, 2017, 52, 4, p 508
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial
Bertini E, Dessaud E, Mercuri E, et al.
The Lancet. Neurology, 2017, 16, 7, p 513
Muscle activations during gait in children with Duchenne muscular dystrophy
Ropars J, Lempereur M, Brochard S, et al.
Annals of physical and rehabilitation medicine, 2016, 59S, p e82
Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients
Grotto S, Cuisset JM, Marret S, et al.
Journal of Neuromuscular Diseases, 2016, 3, 4, p 487
Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
McDonald CM, Meier T, Voit T, et al.
Neuromuscular disorders : NMD, 2016, 26, 8, p 473
Muscle Activation during Gait in Children with Duchenne Muscular Dystrophy
Ropars J, Lempereur M, Vuillerot C, et al.
PLoS ONE, 2016, 11, 9
Manifestations centrales des dystrophinopathies : Central manifestations of dystrophinopathies
Cuisset JM, Rivier F
Archives de pédiatrie, 2015, 22, 12 S1, p 12S58
Changes in muscle activation during gait of children with duchenne muscular dystrophy
Ropars J, Lemeur M, Vuillerot C, et al.
Computer methods in biomechanics and biomedical engineering, 2015, 18, S1, p 2042
Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal Charcot-Marie-Tooth neuropathy (AR-CMT2)
Tiffreau V, Allart E, Dangleterre C, et al.
European journal of physical and rehabilitation medicine, 2015, 51, 3, p 345
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
Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial
Buyse GM, Voit T, Schara U, et al.
Lancet, 2015, 385, 9979, p 1748
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
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
Bladen CL, Thompson R, Jackson JM, et al.
Journal of neurology, 2014, 261, 1, p. 152-163
