A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation
出版年份 2020 全文链接
标题
A novel composition of two heterozygous
GFM1
mutations in a Chinese child with epilepsy and mental retardation
作者
关键词
-
出版物
Brain and Behavior
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2020-08-10
DOI
10.1002/brb3.1791
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。- A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
- (2019) Tova Hershkovitz et al. JOURNAL OF HUMAN GENETICS
- Recent advances in understanding the molecular genetic basis of mitochondrial disease
- (2019) Kyle Thompson et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings
- (2019) Marcello Scala et al. NEUROGENETICS
- Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations
- (2019) Giulia Barcia et al. HUMAN MUTATION
- ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
- (2017) Ingrid E. Scheffer et al. EPILEPSIA
- Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency
- (2017) Mariella T. Simon et al. MITOCHONDRION
- Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
- (2017) Ruth I. C. Glasgow et al. NEUROGENETICS
- Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita
- (2015) Shinobu Fukumura et al. JOURNAL OF HUMAN GENETICS
- Mitochondria: Mitochondrial OXPHOS (dys) function ex vivo – The use of primary fibroblasts
- (2014) Ann Saada INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy
- (2014) S. Ahola et al. NEUROLOGY
- Mitochondrial translation initiation machinery: Conservation and diversification
- (2013) Anton Kuzmenko et al. BIOCHIMIE
- Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
- (2012) S. E. Calvo et al. Science Translational Medicine
- Analysis of the Mitochondrial Complex I-V Enzyme Activities of Peripheral Leukocytes in Oxidative Phosphorylation Disorders
- (2011) Yan-Yan Ma et al. JOURNAL OF CHILD NEUROLOGY
- Toward genotype phenotype correlations in GFM1 mutations
- (2011) Louise Galmiche et al. MITOCHONDRION
- Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle
- (2010) Paulien Smits et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies
- (2010) Paulien Smits et al. JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Transcriptional co-expression and co-regulation of genes coding for components of the oxidative phosphorylation system
- (2008) Corina van Waveren et al. BMC GENOMICS
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