Update on the Genetics of Congenital Myopathies-Reference-Cited by-同舟云学术

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Update on the Genetics of Congenital Myopathies

Published:2019-04 Issue: Volume:29 Page:12-22
ISSN:1071-9091
Container-title:Seminars in Pediatric Neurology
language:en
Short-container-title:Seminars in Pediatric Neurology

Author:

Pelin Katarina,Wallgren-Pettersson Carina

Funder

Sigrid Jusélius Foundation

Association Française contre les Myopathies

Finska Läkaresällskapet

Muscular Dystrophy UK

Medicinska understödsföreningen Liv och Hälsa

Publisher

Elsevier BV

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Reference143 articles.

1. Targeted array comparative genomic hybridization–A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes;Kiiski;Neuromuscul Disord,2013

2. A large deletion affecting TPM3, causing severe nemaline myopathy;Kiiski;J Neuromuscul Dis,2015

3. Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers;Savarese;Neuromuscul Disord,2016

4. Skeletal muscle alpha-actin diseases (actinopathies): Pathology and mechanisms;Nowak;Acta Neuropathol,2013

5. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies;Marttila;Hum Mutat,2014

Cited by 26 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. Congenital myopathies: pathophysiological mechanisms and promising therapies;Journal of Translational Medicine;2024-09-02

2. X-linked myotubular myopathy in a family of two infant siblings: A case report and review;Pediatrics & Neonatology;2024-07

3. Identification of novel variations in three cases with rare inherited neuromuscular disorder;Experimental and Therapeutic Medicine;2024-04-29

4. Circadian Clock in Muscle Disease Etiology and Therapeutic Potential for Duchenne Muscular Dystrophy;International Journal of Molecular Sciences;2024-04-27

5. Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization;International Journal of Molecular Sciences;2023-11-17

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