Associated Papers
Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.
Barbarii T et al.
Genes, 2025
41595432 (PubMed )
Supplement: genes-17-00012-s001.zip › Supplementary_Table_S1_-_Genotype_and_phenotype_data.xlsx › Foaie1
Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis.
Pan Y et al.
Journal of Medical Genetics, 2025
Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies.
Ling C et al.
Iscience, 2023
38047063 (PubMed )
Supplement: mmc3.xlsx › Sheet1
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_3.xlsx › Sheet1
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