Associated Papers
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
Christophers B et al.
Journal of Child Neurology, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Kitamura Y et al.
Journal of Human Genetics, 2016
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
Kondo E et al.
American Journal of Medical Genetics. Part A, 2012
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