A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin-Reference-Cited by-同舟云学术

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A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin

Published:2004-02-01 Issue:2 Volume:251 Page:143-149
ISSN:0340-5354
Container-title:Journal of Neurology
language:
Short-container-title:Journal of Neurology

Author:

Dagvadorj Ayush,Oliv� Montse,Urtizberea Jean-Andoni,Halle Martin,Shatunov Alexey,B�nnemann Carsten,Park Kye-Yoon,Goebel Hans H.,Ferrer Isidro,Vicart Patrick,Dalakas Marinos C.,Goldfarb Lev G.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-004-0289-3.pdf

Cited by 46 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. Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C‐Terminus of segment 2B;Journal of Cellular Physiology;2024-03-19

2. A case report of adolescent myofibrillar myopathy due to a de novo R406W pathogenic variant in desmin with symptoms of “hypertrophic cardiomyopathy”;Heliyon;2024-02

3. The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a <i>de novo DES</i> p.R406W Mutation;Internal Medicine;2023-10-01

4. Protein Aggregates and Aggrephagy in Myopathies;International Journal of Molecular Sciences;2023-05-08

5. Miopatie distali;EMC - Neurologia;2022-08

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