Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome-Reference-Cited by-同舟云学术

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Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome

Published:2014-09-24 Issue:12 Volume:164 Page:3203-3205
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Miyata Rie¹,Hayashi Masaharu²,Itoh Eisaku³

Affiliation:

1. Department of Pediatrics; Tokyo Medical and Dental University; Tokyo Japan

2. Department of Brain Development and Neural Regeneration; Tokyo Metropolitan Institute of Medical Science; Tokyo Japan

3. Department of Pathology; Tokyo Medical and Dental University; Tokyo Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36753/fullpdf

Reference9 articles.

1. Recessive mutations in DPG-5 cause Vici syndrome, a multisystem disorder with defective autophagy;Cullup;Nat Genet,2013

2. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance;del Campo;Am J Med Genet,1999

3. Phosphorylation of p62 activates the Keap1-Nrf2 pathway during selective autophagy;Ichimura;Mol Cell,2013

4. Loss of the dentate nucleus neurons is associated with torpedo formation: A morphometric study in progressive supranuclear palsy and dentatorubro-pallidoluysian atrophy;Matsumoto;Acta Neuropathol,1998

5. Sibling cases of Vici syndrome: Sleep abnormalities and complications with renal tubular acidosis;Miyata;Am J Med Genet Part A,2007

Cited by 13 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. Perinatal clinical course of Vici syndrome associated with novelEPG5variants: unique cardiac changes and difficulty with foetal diagnosis;BMJ Case Reports;2024-01

2. Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?;Journal of Cardiovascular Development and Disease;2022-01-31

3. Neuropathology of genetically defined malformations of cortical development—A systematic literature review;Neuropathology and Applied Neurobiology;2021-02-14

4. Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy;Journal of Inherited Metabolic Disease;2019-04-08

5. Low‐level expression of EPG5 leads to an attenuated Vici syndrome phenotype;American Journal of Medical Genetics Part A;2018-04-21

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