Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation-Reference-Cited by-同舟云学术

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Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation

Published:2021-06 Issue: Volume:21 Page:702-709
ISSN:2329-0501
Container-title:Molecular Therapy - Methods & Clinical Development
language:en
Short-container-title:Molecular Therapy - Methods & Clinical Development

Author:

Seo Kyowon,Kim Eun Kyoung,Choi Jaeil,Kim Dae-Seong,Shin Jin-Hong

Funder

Pusan National University

National Research Foundation of Korea

Publisher

Elsevier BV

Subject

Genetics,Molecular Biology,Molecular Medicine

Reference34 articles.

1. Progress and challenges in diagnosis of dysferlinopathy;Fanin;Muscle Nerve,2016

2. Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial;Walter;Orphanet J. Rare Dis.,2013

3. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population;Norwood;Brain,2009

4. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features;Argov;Brain,2000

5. Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy;Park;Neuromuscul. Disord.,2012

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities;Frontiers in Genetics;2024-06-05

2. Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities;International Journal of Molecular Sciences;2024-05-21

3. Investigator’s influence on the muscle strength assessment in animals in experiment: Comparison of automated “inverted grid” test and its classical variant;Pharmacy & Pharmacology;2024-05-08

4. В6.А-DYSFPRMD/GENEJ MICE AS A GENETIC MODEL OF DYSFERLINOPATHY;Pharmacy & Pharmacology;2022-12-16

5. Current Strategies of Muscular Dystrophy Therapeutics: An Overview;Methods in Molecular Biology;2022-11-19

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