Associated Papers
In Vitro Correction of Point Mutations in the DYSF Gene Using Prime Editing.
Bouchard C et al.
International Journal of Molecular Sciences, 2025
Spontaneous Coronary Artery Dissection and a Family History of Aortic Dissection: A Genetic Association Study.
McGrath-Cadell L et al.
Journal of the American Heart Association, 2025
Muscle MRI Pattern in Dysferlinopathy and its Correlation with Dysferlin Gait.
Chawla T et al.
Annals of Indian Academy of Neurology, 2025
[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients].
Oliveros-Acuña N et al.
Revista De Neurologia, 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
Portrait of Dysferlinopathy: Diagnosis and Development of Therapy.
Bouchard C et al.
Journal of Clinical Medicine, 2023
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Nashi S et al.
Neurogenetics, 2023
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
Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation.
Seo K et al.
Molecular Therapy. Methods & Clinical Development, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
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
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
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J 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
Progress and challenges in diagnosis of dysferlinopathy.
Fanin M et al.
Muscle & Nerve, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Harris E et al.
Neurology. Genetics, 2016
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
Izumi R et al.
Neurology. Genetics, 2015
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
Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America.
Vernengo L et al.
Neuromuscular Disorders : Nmd, 2011
Novel diagnostic features of dysferlinopathies.
Rosales XQ et al.
Muscle & Nerve, 2010
Novel DYSF mutations in Thai patients with distal myopathy.
Liewluck T et al.
Clinical Neurology and Neurosurgery, 2009
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M et al.
Human Mutation, 2009
Dysferlin expression in monocytes: a source of mRNA for mutation analysis.
De Luna N et al.
Neuromuscular Disorders : Nmd, 2007
Translational research and therapeutic perspectives in dysferlinopathies.
Barthélémy F et al.
Molecular Medicine (cambridge, Mass.), 0