EMQN best practice guidelines for genetic testing in dystrophinopathies
Fratter C, Dalgleish R, Allen SK, Santos R, Abbs S, Tuffery-Giraud S, et al. EMQN best practice guidelines for genetic…
Quantitative coordination evaluation for screening children with Duchenne muscular dystrophy
An J, Xie Z, Jia F, et al. Quantitative coordination evaluation for screening children with Duchenne muscular dystrophy. Chaos 2020;30:023116…
Circulating MicroRNAs in Duchenne Muscular Dystrophy
Mousa NO, Abdellatif A, Fahmy N, Zada S, El-Fawal H, Osman A. Circulating MicroRNAs in Duchenne Muscular Dystrophy. Clinical neurology…
Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience
Ardicli D, Haliloglu G, Alikasifoglu M, Topaloglu H. Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience. Neuropediatrics 2019;50:41-45…
Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy
Xu Y, Song T, Li Y, et al. Identification of two novel insertion abnormal transcripts in two Chinese families affected…
Muscular dystrophies
Mercuri E, Bonnemann CG, Muntoni F. Muscular dystrophies. Lancet (London, England) 2019;394:2025-2038 Abstract Muscular dystrophies are primary diseases of…
Duchenne muscular dystrophy
Fox H, Millington L, Mahabeer I, van Ruiten H. Duchenne muscular dystrophy. BMJ (Clinical research ed.) 2020;368:l7012-l7012 Commentary by Frank…
Delays in diagnosis of Duchenne muscular dystrophy: an evaluation of genotypic and sociodemographic factors
Counterman KJ, Furlong P, Wang RT, Martin AS. Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and…
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants
Jones HF, Bryen SJ, Waddell LB, et al. Importance of muscle biopsy to establish pathogenicity of DMD missense and splice…
Motor delays: early identification and evaluation
Noritz GH, Murphy NA. Motor delays: early identification and evaluation. Pediatrics 2013;131:e2016-27 Abstract Pediatricians often encounter children with delays…
