Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing

(2019) Kuo Zhang et al.   CLINICA CHIMICA ACTA

Therapeutic developments for Duchenne muscular dystrophy

(2019) Ingrid E. C. Verhaart et al.   Nature Reviews Neurology

Duchenne muscular dystrophy: an historical treatment review

(2019) Lineu Cesar Werneck et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Muscular dystrophies

(2019) Eugenio Mercuri et al.   LANCET

Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia

(2018) Lily Wu et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Duchenne muscular dystrophy: an updated review of common available therapies

(2018) Arash Salmaninejad et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

National Society of Genetic Counselors Code of Ethics: Explication of 2017 Revisions

(2017) Leigha Senter et al.   Journal of Genetic Counseling

Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal

(2016) Jennifer M. Kwon et al.   MUSCLE & NERVE

Duchenne muscular dystrophy

(2015) Eppie M Yiu et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Twenty-year follow-up of newborn screening for patients with muscular dystrophy

(2015) Jeffrey Chung et al.   MUSCLE & NERVE

Rhabdomyolysis: a genetic perspective

(2015) Renata Siciliani Scalco et al.   Orphanet Journal of Rare Diseases

Evidence-based path to newborn screening for duchenne muscular dystrophy

(2012) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Consider Muscle Disease in Children with Elevated Transaminase

(2012) M. A. Wright et al.   Journal of the American Board of Family Medicine

Asymptomatic/pauci-symptomatic creatine kinase elevations (hyperckemia)

(2012) Nicholas J. Silvestri et al.   MUSCLE & NERVE