Associated Papers
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.
Ek M et al.
Genome Medicine, 2026
41514368 (PubMed )
Supplement: 13073_2025_1596_MOESM2_ESM.xlsx › Table_S2
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L et al.
Neuromuscular Disorders : Nmd, 2008
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