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
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.
Poudel BH et al.
International Journal of Molecular Sciences, 2024
Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan.
Bardakov SN et al.
Molecular Genetics & Genomic Medicine, 2023
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
Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia.
Alharbi N et al.
Frontiers in Neuroscience, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
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
Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P.
Woolger N et al.
The Journal of Biological Chemistry, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E et al.
Orphanet Journal of Rare Diseases, 2017
Progress and challenges in diagnosis of dysferlinopathy.
Fanin M et al.
Muscle & Nerve, 2016
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.
Blandin G et al.
Human Mutation, 2012
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
Cacciottolo M et al.
European Journal of Human Genetics : Ejhg, 2011
Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America.
Vernengo L et al.
Neuromuscular Disorders : Nmd, 2011
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
Gallardo E et al.
Plos One, 2011
Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.
Santos R et al.
Journal of Human Genetics, 2010
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.
Kesper K et al.
Acta Neurologica Scandinavica, 2009
Dysferlin expression in monocytes: a source of mRNA for mutation analysis.
De Luna N et al.
Neuromuscular Disorders : Nmd, 2007
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
Translational research and therapeutic perspectives in dysferlinopathies.
Barthélémy F et al.
Molecular Medicine (cambridge, Mass.), 0