Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)-Reference-Cited by-同舟云学术

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Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)

Published:2022-07 Issue:3 Volume:136 Page:226-237
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Gangfuß Andrea,Hentschel Andreas,Heil Lorena,Gonzalez Maria,Schönecker Anne,Depienne Christel,Nishimura Anna,Zengeler Diana,Kohlschmidt Nicolai,Sickmann Albert,Schara-Schmidt Ulrike,Fürst Dieter O.,van der Ven Peter F.M.,Hahn Andreas,Roos Andreas,Schänzer Anne

Funder

European Regional Development Fund

Deutsche Gesellschaft für Muskelkranke

French Muscular Dystrophy Association

AFM-Téléthon

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference42 articles.

1. Cardiac phenotypes in hereditary muscle disorders: JACC state-of-the-art review;Arbustini;J. Am. Coll. Cardiol.,2018

2. Cardiac involvement in the muscular dystrophies;Silvestri;Muscle Nerve,2018

3. Cardiac involvement in muscular dystrophies: molecular mechanisms;Goodwin;Muscle Nerve,2005

4. Arrhythmias in the muscular dystrophies;Rajdev;Card. Electrophysiol. Clin.,2015

5. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking;Schindler;J. Clin. Invest.,2016

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2. Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant;Journal of Neuropathology & Experimental Neurology;2024-07-29

3. Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome;Skeletal Muscle;2024-07-18

4. Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy;Acta Neuropathologica;2024-07-16

5. Biallelic variants inPOPDC2cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy;2024-07-05

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