Associated Papers
Dysferlinopathy due to a homozygous DYSF DysF-domain variant in a non-consanguineous Tunisian family.
Belhassen I et al.
Molecular Biology Reports, 2026
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments.
Anwar S et al.
Biomolecules, 2024
Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.
Rufibach L et al.
Journal of Personalized Medicine, 2023
Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.
Park J et al.
Genes, 2023
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Nashi S et al.
Neurogenetics, 2023
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.
Izumi R et al.
Human Mutation, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 2020
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
Jin SQ et al.
Chinese Medical Journal, 2016
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M et al.
Human Mutation, 2009
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Nguyen K et al.
Human Mutation, 2005
Select a paper to view details