Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

(2015) Jong Hee Chae et al.   JOURNAL OF MEDICAL GENETICS

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

(2015) Emily J. Todd et al.   Orphanet Journal of Rare Diseases

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy

(2015) Roula Ghaoui et al.   JAMA Neurology

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

(2014) Arunkanth Ankala et al.   ANNALS OF NEUROLOGY

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

(2014) Kristýna Stehlíková et al.   BMC Neurology

Diagnostic approach to the congenital muscular dystrophies

(2014) Carsten G. Bönnemann et al.   NEUROMUSCULAR DISORDERS

Approach to the diagnosis of congenital myopathies

(2013) Kathryn N. North et al.   NEUROMUSCULAR DISORDERS

Next generation sequencing for molecular diagnosis of neuromuscular diseases

(2012) Nasim Vasli et al.   ACTA NEUROPATHOLOGICA