Associated Papers
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
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
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
Dominov JA et al.
Annals of Clinical and Translational Neurology, 2019
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
Bugiardini E et al.
Frontiers in Neurology, 2018
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Harris E et al.
Neurology. Genetics, 2016
Novel diagnostic features of dysferlinopathies.
Rosales XQ et al.
Muscle & Nerve, 2010
Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.
Krahn M et al.
Genetic Testing and Molecular Biomarkers, 2009
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M et al.
Human Mutation, 2009
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