An unusual phenotype of late-onset desminopathy-Reference-Cited by-同舟云学术

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An unusual phenotype of late-onset desminopathy

Published:2013-11 Issue:11 Volume:23 Page:922-923
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Palmio Johanna,Penttilä Sini,Huovinen Sanna,Haapasalo Hannu,Udd Bjarne

Publisher

Elsevier BV

Subject

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

Reference3 articles.

1. Desminopathies: pathology and mechanisms;Clemen;Acta Neuropathol,2013

2. Distinct muscle imaging patterns in myofibrillar myopathies;Fischer;Neurology,2008

3. Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D;van Spaendonck-Zwarts;Neth Heart J,2012

Cited by 8 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. Distal myopathy;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

2. Increased remodeling and impaired adaption to endurance exercise in desminopathy;2021-10-03

3. Generation of desminopathy in rats using CRISPR‐Cas9;Journal of Cachexia, Sarcopenia and Muscle;2020-09-07

4. Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management;Progress in Pediatric Cardiology;2018-12

5. Molecular insights into cardiomyopathies associated with desmin (DES) mutations;Biophysical Reviews;2018-06-20

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