Cylindrical spirals in a patient with fascioscapulohumeral muscular dystrophy
Source: Journal of Neuropathology and Experimental Neurology
Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing
Source: Genome Research
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype
Source: European Journal of Paediatric Neurology
Dual molecular diagnoses in a neurometabolic specialty clinic
Source: American Journal of Medical Genetics, Part A
Myopathy
Source: Decision-Making in Adult Neurology
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