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Open access

Case report

First published 2024-11

Asymptomatic and oligosymptomatic states of dysferlinopathy

Sergey N Bardakov, Roman V Deev, Vadim A Tsargush [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2013-4

Dysferlinopathy Presenting as Rhabdomyolysis and Acute Renal Failure

Shadé Moody, Pedro Mancias

Journal of Child Neurology

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Case report

First published 2010-08

Severe Respiratory and Skeletal Muscles Involvement in a Carrier of Dysferlinopathy With Chronic Obstructive Pulmonary Disease

Salvatore Fuschillo, Yvan Torrente, Giovanni Balzano

Respiratory Care

Retricted access

Research article

First published 2020-04

Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells

Nisha Verwey, Isabella Gazzoli, Sabine Krause [...]

Nucleic Acid Therapeutics

Retricted access

Research article

First published 2009-02

Dysferlinopathy in Chile: Evidence of Two Novel Mutations in the First Reported Cases

Jorge A. Bevilacqua, Martin Krahn, Luis Pedraza [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2018-07

Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy

Rachael A. Potter, Danielle A. Griffin, Patricia C. Sondergaard [...]

Human Gene Therapy

Free access

Research article

First published

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ Cells

Florian Barthélémy, Cédric Blouin, Nicolas Wein [...]

Journal of Neuromuscular Diseases

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Research article

First published 2018-9

Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia

Hussein Algahtani, Bader Shirah, Ali H. Alassiri [...]

Journal of Back and Musculoskeletal Rehabilitation

Open access

Article commentary

First published 2023

Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy

Miranda D. Grounds, Erin M. Lloyd

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2009-08

Identification of Different Genomic Deletions and One Duplication in the Dysferlin Gene Using Multiplex Ligation-Dependent Probe Amplification and Genomic Quantitative PCR

Martin Krahn, Ana Borges, Claire Navarro [...]

Genetic Testing and Molecular Biomarkers

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