标题
Leigh syndrome caused by mutations in MTFMT
is associated with a better prognosis
作者
关键词
-
出版物
Annals of Clinical and Translational Neurology
Volume 6, Issue 3, Pages 515-524
出版商
Wiley
发表日期
2019-02-18
DOI
10.1002/acn3.725
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations
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- MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
- (2018) Yi Shiau Ng et al. EBioMedicine
- Mitochondrial methionyl N-formylation affects steady-state levels of oxidative phosphorylation complexes and their organization into supercomplexes
- (2018) Tania Arguello et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients
- (2017) Kalliopi Sofou et al. JOURNAL OF MEDICAL GENETICS
- Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency
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- Leigh syndrome: One disorder, more than 75 monogenic causes
- (2015) Nicole J. Lake et al. ANNALS OF NEUROLOGY
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- (2014) Robert W. Taylor et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- A multicenter study on Leigh syndrome: disease course and predictors of survival
- (2014) Kalliopi Sofou et al. Orphanet Journal of Rare Diseases
- Exome sequencing reveals a novel Moroccan founder mutation inSLC19A3as a new cause of early-childhood fatal Leigh syndrome
- (2013) Mike Gerards et al. BRAIN
- Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
- (2013) Tobias B. Haack et al. MOLECULAR GENETICS AND METABOLISM
- A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders
- (2012) R.J.T. Rodenburg et al. MITOCHONDRION
- Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation
- (2011) Elena J. Tucker et al. Cell Metabolism
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