Dysferlinopathies: Clinical and genetic variability-Reference-Cited by-同舟云学术

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Dysferlinopathies: Clinical and genetic variability

Published:2022-09-06 Issue:6 Volume:102 Page:465-473
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Ivanova Alisa¹,Smirnikhina Svetlana¹,Lavrov Alexander¹

Affiliation:

1. Research Centre for Medical Genetics Moscow Russia

Funder

Ministry of Science and Higher Education of the Russian Federation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14216

Reference64 articles.

1. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

2. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

3. Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients

4. Progress and challenges in diagnosis of dysferlinopathy

Cited by 9 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. Secondary mitochondrial dysfunction across the spectrum of hereditary and acquired muscle disorders;Mitochondrion;2024-09

2. Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report;Heliyon;2024-08

3. Nanodysferlins support membrane repair and binding to TRIM72/MG53 but do not localize to t-tubules or stabilize Ca2+ signaling;Molecular Therapy - Methods & Clinical Development;2024-06

4. The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments;Biomolecules;2024-02-21

5. Phenotypic and genotypic analysis of a patient with Miyoshi myopathy caused by truncated protein;Gene;2024-01

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