Associated Papers
Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy.
He QF et al.
European Journal of Neurology, 2025
41327964 (PubMed )
Supplement: ENE-32-e70442-s001.xls › Sheet1
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
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Comprehensive Proteomic Analysis of Dysferlinopathy Unveiling Molecular Mechanisms and Biomarkers Linked to Pathological Progression.
Wang D et al.
Cns Neuroscience & Therapeutics, 2024
Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.
He J et al.
Open Life Sciences, 2024
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 clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants.
Wang N et al.
Bmc Neurology, 2022
Null variants in DYSF result in earlier symptom onset.
Park HJ et al.
Clinical Genetics, 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
Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.
Mojbafan M et al.
Molecular Genetics & Genomic Medicine, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
Dominov JA et al.
Annals of Clinical and Translational Neurology, 2019
Serum exosomes can restore cellular function in vitro and be used for diagnosis in dysferlinopathy.
Dong X et al.
Theranostics, 2018
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
Jin SQ et al.
Chinese Medical Journal, 2016
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
Takahashi T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
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
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
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