Détail de la revue
Documents disponibles dans cette revue
Mettre toutes les notices dans le panier Faire une suggestion Ajouter un critère de recherche
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: Report of four patients
Okhovat AA, Nilipour Y, Boostani R, et al.
Neuromuscular disorders : NMD, 2021, 31, 1, p 29
Long-term follow-up of patients with Type 2 and non-ambulant Type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial
Muntoni F, Bertini E, Comi G, et al.
Neuromuscular disorders : NMD, 2020
The 2021 version of the gene table of neuromuscular disorders (nuclear genome) : JOURNAL PRE-PROOF
Neuromuscular disorders : NMD, 2020, 30, 12, p 1008
Changes in walking velocity and stride parameters with age in children with Charcot-Marie-Tooth disease.
Ounpuu S, Pierz KA, Acsadi G, et al.
Neuromuscular disorders : NMD, 2020, 30, 10, p 825
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies
Perrin A, Juntas Morales R, Rivier F, et al.
Neuromuscular disorders : NMD, 2020
247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019
Warman-Chardon J, Diaz-Manera J, Tasca G, et al.
Neuromuscular disorders : NMD, 2020
Adalimumab and myositis: A case report and review of the French and international Pharmacovigilance Databases
Gaboriau L, Davion JB, Combret S, et al.
Neuromuscular disorders : NMD, 2020
248th ENMC International Workshop: Myotonic dystrophies: Molecular approaches for clinical purposes, framing a European molecular research network, Hoofddorp, the Netherlands, 11-13 October 2019
Wansink DG, Gourdon G, van Engelen BGM, et al.
Neuromuscular disorders : NMD, 2020, 30, 6, p 521
Characterizing cognitive-motor impairments in patients with myotonic dystrophy type 1
Filli L, Schwegler S, Meyer C, et al.
Neuromuscular disorders : NMD, 2020, 30, 6, p 510
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
Stavusis J, Micule I, Wright NT, et al.
Neuromuscular disorders : NMD, 2020, 30, 6, p 483
Combining genetics, neuropsychology and neuroimaging to improve understanding of brain involvement in Duchenne muscular dystrophy - a narrative review
Doorenweerd N
Neuromuscular disorders : NMD, 2020, 30, 6, p 437
Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy
Storey EC, Holt I, Morris GE, et al.
Neuromuscular disorders : NMD, 2020, 30,6, p 443
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy
Wagner KR, Abdel-Hamid HZ, Mah JK, et al.
Neuromuscular disorders : NMD, 2020, 30, 6, p 492
Spontaneous symptomatic improvement in a pediatric patient with anti-3-hydroxy-3-methylglutraryl-coenzyme A reductase myopathy
Suarez B, Jofré J, Lozano-Arango A, et al.
Neuromuscular disorders : NMD, 2020, 30, 6, p 503
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features
Lim AZ, McMacken G, Rastelli F, et al.
Neuromuscular disorders : NMD, 2020
The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates
Sela I, Goss V, Becker-Cohen M, et al.
Neuromuscular disorders : NMD, 2020
1st Sitting Workshop for neuromuscular disorders Denmark, 30 September - 1 October 2019
de Groot IJ, de Groot IJ, Werlauff U
Neuromuscular disorders : NMD, 2020
Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs
Bolduc V, Minor KM, Hu Y, et al.
Neuromuscular disorders : NMD, 2020, 30, 5, p 360
Confounding clinical presentation and different disease progression in CMT4B1
Guimaraes-Costa R, Villar-Quiles RN, Latour P, et al.
Neuromuscular disorders : NMD, 2020
A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels
Olby NJ, Friedenberg S, Meurs K, et al.
Neuromuscular disorders : NMD, 2020
Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants
Ma MT, Chen DH, Raskind WH, et al.
Neuromuscular disorders : NMD, 2020
Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant
Avila-Smirnow D, Vargas Leal CP, Beytia Reyes MLA, et al.
Neuromuscular disorders : NMD, 2020
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome
Al-Muhaizea MA, AlQuait L, AlRasheed A, et al.
Neuromuscular disorders : NMD, 2020
Randomisation versus prioritisation in a managed access programme: Lessons from spinal muscular atrophy
Servais L, Kirschner J, Muntoni F
Neuromuscular disorders : NMD, 2020, 30, 4, p 267
