Autophagic vacuolar pathology in desminopathies-Reference-Cited by-同舟云学术

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Autophagic vacuolar pathology in desminopathies

Published:2015-03 Issue:3 Volume:25 Page:199-206
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Weihl Conrad C.,Iyadurai Stanley,Baloh Robert H.,Pittman Sara K.,Schmidt Robert E.,Lopate Glenn,Pestronk Alan,Harms Matthew B.

Funder

NIH

Burroughs Wellcome Fund

Publisher

Elsevier BV

Subject

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

Reference30 articles.

1. Autophagic vacuolar myopathy;Nishino;Semin Pediatr Neurol,2006

2. Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies;Sugie;J Neuropathol Exp Neurol,2005

3. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy;Ramachandran;Acta Neuropathol,2013

4. Novel CLN3 mutation causing autophagic vacuolar myopathy;Cortese;Neurology,2014

5. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease);Nishino;Nature,2000

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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. Inhibition of autolysosomes by repurposing drugs as a promising therapeutic strategy for the treatment of cancers;All Life;2022-05-24

3. X-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children;Neurology India;2022

4. Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death;International Journal of Cardiology;2021-04

5. Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI;Neuromuscular Disorders;2021-03

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