Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in <i>TOP3A</i> gene-Reference-Cited by-同舟云学术

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Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene

Published:2022-12-28 Issue:4 Volume:103 Page:492-494
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Llauradó Arnau¹^ORCID,Rovira‐Moreno Eulalia²,Codina‐Solà Marta²,Martínez‐Saez Elena³,Salvadó Maria¹,Sanchez‐Tejerina Daniel¹,Sotoca Javier¹,López‐Diego Verónica¹,Restrepo‐Vera Juan Luis¹,Garcia‐Arumi Elena²,Juntas‐Morales Raul¹

Affiliation:

1. Department of Neurology, Neuromuscular Diseases Unit Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona Barcelona Spain

2. Department of Clinical and Molecular Genetics Hospital Vall d'Hebron Barcelona Spain

3. Department of Pathology Vall d'Hebron University Hospital Barcelona Spain

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14287

Reference4 articles.

1. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

2. Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA

3. 232nd ENMC international workshop: Recommendations for treatment of mitochondrial DNA maintenance disorders. 16 – 18 June 2017, Heemskerk, The Netherlands

4. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

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. Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation;Biochemical Journal;2024-05-28

2. Variation of Structure and Cellular Functions of Type IA Topoisomerases across the Tree of Life;Cells;2024-03-21

3. Mitochondrial Chronic Progressive External Ophthalmoplegia;Brain Sciences;2024-01-27

4. TOP3A coupling with replication forks and repair of TOP3A cleavage complexes;Cell Cycle;2024-01-17

5. Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability;EMBO Molecular Medicine;2023-04-04

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