MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
出版年份 2019 全文链接
标题
MT-ATP6
mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
作者
关键词
-
出版物
HUMAN MUTATION
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2019-02-15
DOI
10.1002/humu.23723
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
- (2018) Emanuele Barca et al. HUMAN MOLECULAR GENETICS
- MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion
- (2018) Lishuang Shen et al. HUMAN MUTATION
- MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease
- (2016) Lishuang Shen et al. HUMAN MUTATION
- 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
- Infantile mitochondrial disorder associated with subclinical hypothyroidism is caused by a rare mitochondrial DNA 8691A>G mutation
- (2015) Xiaosheng Hao et al. NEUROREPORT
- Expanding the clinical phenotypes of MT-ATP6 mutations
- (2014) Ester López-Gallardo et al. HUMAN MOLECULAR GENETICS
- Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene
- (2014) Lindsay C. Burrage et al. MOLECULAR GENETICS AND METABOLISM
- Striking Pathology in Leigh Syndrome Associated With the MTATP6 T8993G Mutation
- (2014) Gabriella Sinko et al. PEDIATRIC NEUROLOGY
- A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy
- (2013) An I. Jonckheere et al. BRAIN
- Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations
- (2013) K. Aure et al. NEUROLOGY
- A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa — The NARP syndrome
- (2012) Morten Duno et al. GENE
- Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
- (2012) Tomas Honzik et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Adult-onset spinocerebellar ataxia syndromes due toMTATP6mutations
- (2012) Gerald Pfeffer et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease
- (2012) R. D. S. Pitceathly et al. NEUROLOGY
- Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 subunit
- (2010) J. A. Mayr et al. HUMAN MOLECULAR GENETICS
- Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation
- (2010) Christophe Verny et al. MITOCHONDRION
- Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids
- (2009) Marianna Sikorska et al. MUSCLE & NERVE
- TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
- (2008) Alena Čížková et al. NATURE GENETICS
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