Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
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
39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 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
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 ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
Jin SQ et al.
Chinese Medical Journal, 2016
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
Stehlíková K et al.
Bmc Neurology, 2014
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
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
Walter MC et al.
Orphanet Journal of Rare Diseases, 2013
Novel diagnostic features of dysferlinopathies.
Rosales XQ et al.
Muscle & Nerve, 2010
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M et al.
Human Mutation, 2009
Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.
Kesari A et al.
The American Journal of Pathology, 2008
[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].
Lukás Z et al.
Ceskoslovenska Patologie, 2001
Select a paper to view details