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Revue : Neuromuscular disorders : NMD, 31, 1 Titre : Dysphagia in adult myopathies Type de document : Article Auteurs : Argov Z ; de Visser M Editeur : England Année de publication : 01/2021 Pages : p 5 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33334661 / DOI : 10.1016/j.nmd.2020.11.001
N° Profil MNM : 2020122 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33334661 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Neuromuscular disorders : NMD, 31, 1 Titre : Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: Report of four patients Type de document : Article Auteurs : Okhovat AA ; Nilipour Y ; Boostani R ; Vahabizad F ; Najmi S ; Nafissi S ; Fatehi F Editeur : England Année de publication : 01/2021 Pages : p 29 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33308940 / DOI : 10.1016/j.nmd.2020.11.004
N° Profil MNM : 2020122 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33308940 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Neuromuscular disorders : NMD Titre : 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 Type de document : Article Auteurs : Muntoni F ; Bertini E ; Comi G ; Kirschner J ; Lusakowska A ; Mercuri E ; Scoto M ; Ludo van der Pol W ; Buroleska A ; El-Khairi M ; Fontoura P ; Ives J ; Gorni K ; Reid C ; Fuerst-Recktenwald S Année de publication : 04/11/2020 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1016/j.nmd.2020.10.008 / Pubmed : 33246887
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(mauvais) 15 (excellent)
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The 2021 version of the gene table of neuromuscular disorders (nuclear genome) : JOURNAL PRE-PROOF
Neuromuscular disorders : NMD, 2020, 30, 12, p 1008
Revue : Neuromuscular disorders : NMD, 30, 12 Titre : The 2021 version of the gene table of neuromuscular disorders (nuclear genome) : JOURNAL PRE-PROOF Type de document : Article Editeur : England Année de publication : 11/2020 Pages : p 1008 Langues : Anglais (eng) Mots-clés : article de synthèse ; classification des maladies ; gène ; hérédité ; maladie neuromusculaire Pubmed / DOI : Pubmed : 33257164 / DOI : 10.1016/j.nmd.2020.11.009
N° Profil MNM : 2019121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31791870 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Neuromuscular disorders : NMD, 30, 10 Titre : Changes in walking velocity and stride parameters with age in children with Charcot-Marie-Tooth disease. Type de document : Article Auteurs : Ounpuu S ; Pierz KA ; Acsadi G ; Wren TAL Editeur : England Année de publication : 10/2020 Pages : p 825 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32928646 / DOI : 10.1016/j.nmd.2020.08.359
N° Profil MNM : 2020092 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32928646 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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1st Sitting Workshop for neuromuscular disorders Denmark, 30 September - 1 October 2019
de Groot IJ, de Groot IJ, Werlauff U
Neuromuscular disorders : NMD, 2020
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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
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Confounding clinical presentation and different disease progression in CMT4B1
Guimaraes-Costa R, Villar-Quiles RN, Latour P, et al.
Neuromuscular disorders : NMD, 2020
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A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels
Olby NJ, Friedenberg S, Meurs K, et al.
Neuromuscular disorders : NMD, 2020
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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
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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
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Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome
Al-Muhaizea MA, AlQuait L, AlRasheed A, et al.
Neuromuscular disorders : NMD, 2020
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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
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