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
Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy.
Zinina E et al.
Clinical Genetics, 2025
Association of DMD Gene Variant Classes With Motor Outcomes in a Drug Registration Clinical Trial Setting.
Fang Y et al.
Neurology. Genetics, 2025
Comprehensive genetic characteristics of dystrophinopathies in China.
Ma P et al.
Orphanet Journal of Rare Diseases, 2018
29973226 (PubMed )
Supplement: 13023_2018_853_MOESM1_ESM.pdf
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM1_ESM.xlsx › Arkusz1
A population-based study of dystrophin mutations in Canada.
Mah JK et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2011
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
Takeshima Y et al.
Journal of Human Genetics, 2010
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