Hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle associated with inactivation of KLHL24-Reference-Cited by-同舟云学术

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Hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle associated with inactivation of KLHL24

Published:2016-10 Issue: Volume:26 Page:S152
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Hedberg-Oldfors C.,Danielsson O.,Hübbert L.,Nennesmo I.,Abramsson A.,Banote R.,Edling M.,Zetterberg H.,Oldfors A.

Publisher

Elsevier BV

Subject

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

Cited by 5 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. Towards a Better Understanding of Genotype–Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction;International Journal of Molecular Sciences;2022-09-15

2. Gain-of-function mutation in ubiquitin ligase KLHL24 causes desmin degradation and dilatation in hiPSC-derived engineered heart tissues;Journal of Clinical Investigation;2021-09-01

3. Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy;Journal of Investigative Dermatology;2019-01

4. KLHL24: Beyond Skin Fragility;Journal of Investigative Dermatology;2019-01

5. Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24;British Journal of Dermatology;2018-08-14

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