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Skeletal muscle magnetic resonance imaging in Pompe disease
Diaz-Manera J, Walter G, Straub V
Muscle & Nerve, 2020
A survey of the feasibility of developing osteoporosis clinical trials in Duchenne muscular dystrophy: Survey of the opinion of young people with Duchenne muscular dystrophy, families and clinicians
Choong Wong S, Joseph S, Capaldi N, et al.
Clinical trials (London, England), 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
Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
Giacomucci G, Monforte M, Diaz-Manera J, et al.
European journal of neurology, 2020
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy
Passarelli C, Selvatici R, Carrieri A, et al.
Frontiers in Genetics, 2020, 11, p 605
Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
Fatehi F, Okhovat AA, Nilipour Y, et al.
European journal of neurology, 2020
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
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
Murphy LB, Schreiber-Katz O, Rafferty K, et al.
Annals of clinical and translational neurology, 2020, 7, 5, p 757
High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia
White Z, Hakim CH, Theret M, et al.
Journal of clinical lipidology, 2020
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
Frank DE, Schnell FJ, Akana C, et al.
Neurology, 2020, 94, 21, e2270
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy
Hogrel JY, Decostre V, Ledoux I, et al.
Journal of neurology, 2020
Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms
Banerji CRS, Cammish P, Evangelista T, et al.
Neuromuscular disorders : NMD, 2020
Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
Willmann R, Lee J, Turner C, et al.
Disease models & mechanisms, 2020, 13, 2
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients
Mroczek M, Durmus H, Bijarnia-Mahay S, et al.
Neuromuscular disorders : NMD, 2020
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern
Servian-Morilla E, Cabrera-Serrano M, Johnson K, et al.
Acta neuropathologica, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism
Meinke P, Kerr ARW, Czapiewski R, et al.
EBiomedicine, 2020, 51
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Töpf A, Johnson K, Bates A, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020, 22, 9, p 1478
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification
Becker LL, Dafsari HS, Schallner J, et al.
Journal of human genetics, 2020
A decade of optimizing drug development for rare neuromuscular disorders through TACT
Wagner KR, de Luca A, Caizergues D, et al.
Nature reviews. Drug discovery, 2020, 19, 1, p 1
Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies
Verdu-Diaz J, Alonso-Perez J, Nunez-Peralta C, et al.
Neurology, 2020, 94, 10, p e1094
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
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Sframeli M, Sarkozy A, Bertoli M, et al.
Neuromuscular disorders : NMD, 2020, 27, 9, p 793
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 11
Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy
Signorelli M, Ayoglu B, Johansson C, et al.
Journal of cachexia, sarcopenia and muscle, 2019
