Low-level dystrophin expression attenuating the dystrophinopathy phenotype-Reference-Cited by-同舟云学术

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Low-level dystrophin expression attenuating the dystrophinopathy phenotype

Published:2018-02 Issue:2 Volume:28 Page:116-121
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Waldrop Megan A.,Gumienny Felecia,El Husayni Saleh,Frank Diane E.,Weiss Robert B.,Flanigan Kevin M.

Funder

National Institutes of Health

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference28 articles.

1. Duchenne and Becker muscular dystrophies;Flanigan;Neurol Clin,2014

2. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule;Aartsma-Rus;Muscle Nerve,2006

3. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus;Monaco;Genomics,1988

4. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort;Dent;Am J Med Genet A,2005

5. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy;Shiga;J Clin Invest,1997

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1. Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease;Journal of Neuromuscular Diseases;2024-03-05

2. Prime editing strategies to mediate exon skipping in DMD gene;Frontiers in Medicine;2023-05-25

3. A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity;European Journal of Human Genetics;2023-03-20

4. Development and Validation of a Western Blot Method to Quantify Mini-Dystrophin in Human Skeletal Muscle Biopsies;The AAPS Journal;2022-12-20

5. Implications of notch signaling in duchenne muscular dystrophy;Frontiers in Physiology;2022-09-27

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