Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations-Reference-Cited by-同舟云学术

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Published:2014-09-26 Issue:12 Volume:137 Page:3160-3170
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Böhm Johann,Biancalana Valérie,Malfatti Edoardo,Dondaine Nicolas,Koch Catherine,Vasli Nasim,Kress Wolfram,Strittmatter Matthias,Taratuto Ana Lia,Gonorazky Hernan,Laforêt Pascal,Maisonobe Thierry,Olivé Montse,Gonzalez-Mera Laura,Fardeau Michel,Carrière Nathalie,Clavelou Pierre,Eymard Bruno,Bitoun Marc,Rendu John,Fauré Julien,Weis Joachim,Mandel Jean-Louis,Romero Norma B.,Laporte Jocelyn

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Reference40 articles.

1. T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases;Al-Qusairi;Skelet Muscle,2011

2. Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways;Al-Qusairi;FASEB J,2013

3. “Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy;Bevilacqua;Acta Neuropathol,2009

4. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset;Bitoun;Ann Neurol,2007

5. Mutations in dynamin 2 cause dominant centronuclear myopathy;Bitoun;Nat Genet,2005

Cited by 82 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. Loss-of-function variants inJPH1cause congenital myopathy with prominent facial and ocular involvement;Journal of Medical Genetics;2024-08-28

2. Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy;ELIFE;2024

3. Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy;eLife;2024-07-12

4. Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy;eLife;2024-07-12

5. Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy;2024-06-21