Associated Papers
Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience.
Kale MY et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.
Pandey A et al.
Nature Communications, 2020
32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM6_ESM.xlsx › Unpaired_Mutations_GBC
Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.
Özyilmaz B et al.
Annals of Human Genetics, 2019
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
Bugiardini E et al.
Frontiers in Neurology, 2018
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M et al.
Human Mutation, 2009
Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases.
Bevilacqua JA et al.
Genetic Testing and Molecular Biomarkers, 2009
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Nguyen K et al.
Human Mutation, 2005
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