Associated Papers
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
4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.
Tominaga K et al.
Iscience, 2022
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
Jarmula A et al.
Scientific Reports, 2019
31395899 (PubMed )
Supplement: 41598_2019_47849_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_MOESM2_ESM.xlsx › individual
Dysferlinopathy in Iran: Clinical and genetic report.
Fatehi F et al.
Journal of the Neurological Sciences, 2015
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-0007-Table_S10.xlsx › Sheet1
Identification of splicing defects caused by mutations in the dysferlin gene.
Kergourlay V et al.
Human Mutation, 2014
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
Stehlíková K et al.
Bmc Neurology, 2014
Genetic and epigenetic determinants of low dysferlin expression in monocytes.
Gallardo E et al.
Human Mutation, 2014
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M et al.
Human Mutation, 2009
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.
Cagliani R et al.
Human Mutation, 2005
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Nguyen K et al.
Human Mutation, 2005
[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].
Lukás Z et al.
Ceskoslovenska Patologie, 2001
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