Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect-Reference-Cited by-同舟云学术

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Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect

Published:2010-02 Issue:01 Volume:41 Page:30-34
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

Herzer M.,Koch J.,Prokisch H.,Rodenburg R.,Rauscher C.,Radauer W.,Forstner R.,Pilz P.,Rolinski B.,Freisinger P.,Mayr J. A.,Sperl W.

Publisher

Georg Thieme Verlag KG

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0030-1255062.pdf

Cited by 34 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. Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10;American Journal of Medical Genetics Part A;2024-03-13

2. Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality;Orphanet Journal of Rare Diseases;2024-02-28

3. Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality;2023-10-23

4. Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum;Annals of Neurology;2023-08-12

5. Accelerating the genetic diagnosis of neurological disorders presenting with episodic apnoea in infancy;The Lancet Child & Adolescent Health;2022-07

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