Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
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
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
Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.
Mianesaz H et al.
Molecular Genetics & Genomic Medicine, 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
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
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 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
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
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Harris E et al.
Neurology. Genetics, 2016
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.
Zhao Z et al.
Clinical Neurology and Neurosurgery, 2013
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
1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.
De Luna N et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2012
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