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Open access

Case report

First published 2022

A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD gene

Xing-Chuan Li, Song Wang, Jia-Rui Zhu [...]

Sage Open Medical Case Reports

Retricted access

Other

First published 2010-9

Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

Richard S. Finkel

Journal of Child Neurology

Retricted access

Research article

First published 2004-08

Chimeric RNA/Ethylene-Bridged Nucleic Acids Promote Dystrophin Expression in Myocytes of Duchenne Muscular Dystrophy by Inducing Skipping of the Nonsense Mutation-Encoding Exon

Agus Surono, Tran Van Khanh, Yasuhiro Takeshima [...]

Human Gene Therapy

Open access

Research article

First published 2024-12

Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia

Mushtaha Ahmad, Alaa ElRasoul, Raneem Sedayou [...]

Journal of International Medical Research

Open access

Case report

First published 2018

One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better?

Lucia Ruggiero, Rosa Iodice, Marcello Esposito [...]

Therapeutic Advances in Neurological Disorders

Free access

Review article

First published 2010-11

Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy

Vinod Malik, Louise R. Rodino-Klapac, Laurence Viollet [...]

Therapeutic Advances in Neurological Disorders

Retricted access

Research article

First published 2021-03

Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients

Mehwish Zehravi, Mohsin Wahid, Junaid Ashraf [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Other

First published 2010-9

The Potential of Exon Skipping for Treatment for Duchenne Muscular Dystrophy

Terence Partridge

Journal of Child Neurology

Retricted access

Research article

First published 2009-06

Small Mutations Detected by Multiplex Ligation-Dependent Probe Amplification of the Dystrophin Gene

Yo Okizuka, Yasuhiro Takeshima, Hiroyuki Awano [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Review article

First published 2012-07

Genetic Therapeutic Approaches for Duchenne Muscular Dystrophy

Helen Foster, Linda Popplewell, George Dickson

Human Gene Therapy

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