标题
Clinical and laboratory interpretation of mitochondrial mRNA variants
作者
关键词
-
出版物
HUMAN MUTATION
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2020-07-12
DOI
10.1002/humu.24082
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。- Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations
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- The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient
- (2018) Sonia Emperador et al. Frontiers in Neuroscience
- MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
- (2018) Yi Shiau Ng et al. EBioMedicine
- Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5
- (2016) Hana Kolarova et al. OPHTHALMIC GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions
- (2014) Chiara La Morgia et al. BMC Neurology
- Expanding the clinical phenotypes of MT-ATP6 mutations
- (2014) Ester López-Gallardo et al. HUMAN MOLECULAR GENETICS
- Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy
- (2013) Carla Giordano et al. BRAIN
- Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene
- (2012) Tomas Honzik et al. MOLECULAR GENETICS AND METABOLISM
- Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
- (2011) Danhua Zhao et al. JOURNAL OF HUMAN GENETICS
- Natural History of Leber's Hereditary Optic Neuropathy: Longitudinal Analysis of the Retinal Nerve Fiber Layer by Optical Coherence Tomography
- (2010) Piero Barboni et al. OPHTHALMOLOGY
- Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes
- (2009) S M Ware et al. JOURNAL OF MEDICAL GENETICS
- The G13513A Mutation in the ND5 Gene of Mitochondrial DNA as a Common Cause of MELAS or Leigh Syndrome
- (2008) Sara Shanske et al. ARCHIVES OF NEUROLOGY
- Identification of novel mutations in five patients with mitochondrial encephalomyopathy
- (2008) Lucia Valente et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
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