Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital-Reference-Cited by-同舟云学术

Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital

Published:2022-03-06 Issue:4 Volume:91 Page:466-482
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Annals of Neurology

Author:

Stenton Sarah L.¹²,Zou Ying³,Cheng Hua⁴,Liu Zhimei³,Wang Junling³,Shen Danmin³,Jin Hong³,Ding Changhong³,Tang Xiaolu⁴,Sun Suzhen⁵,Han Hong⁶,Ma Yanli⁷,Zhang Weihua³⁷,Jin Ruifeng⁸,Wang Hua⁹,Sun Dan¹⁰,Lv Jun Lan³,Prokisch Holger¹²^ORCID,Fang Fang³

Affiliation:

1. Institute of Human Genetics, School of Medicine Technical University of Munich Munich Germany

2. Institute of Neurogenomics Helmholtz Zentrum München Neuherberg Germany

3. Department of Neurology, National Center for Children's Health, Beijing Children's Hospital Capital Medical University Beijing China

4. Image Center, National Center for Children's Health, Beijing Children's Hospital Capital Medical University Beijing China

5. Department of Neurology Children's Hospital of Hebei Province Shijiazhuang China

6. Department of Neurology Children's Hospital of Shanxi Province Taiyuan China

7. Department of Neurology Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital Zhengzhou China

8. Department of Neurology Qilu Children's Hospital of Shandong University Jinan China

9. Department of Pediatrics Shengjing Hospital of China Medical University Shenyang China

10. Department of Neurology Wuhan Children's Hospital Wuhan China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26313

Reference54 articles.

1. The dimensions of primary mitochondrial disorders;Schlieben LD;Front Cell Dev Biol,2020

2. Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

3. The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities

4. Leigh syndrome: Clinical features and biochemical and DNA abnormalities

5. Minimum birth prevalence of mitochondrial respiratory chain disorders in children

Cited by 10 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. Ndufs4 KO mice: A model to study comorbid mood disorders associated with mitochondrial dysfunction;Pharmacology Biochemistry and Behavior;2024-01

2. A case of Leigh syndrome presented with paroxysmal body swing;Heliyon;2024-01

3. The mitochondrial tRNA MT‐TW m.5537_5538insT variant presents with significant intra‐familial clinical variability;American Journal of Medical Genetics Part A;2023-08-31

4. 258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands;Neuromuscular Disorders;2023-08

5. Strategic validation of variants of uncertain significance inECHS1genetic testing;Journal of Medical Genetics;2023-04-13