Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
出版年份 2015 全文链接
标题
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
作者
关键词
-
出版物
Frontiers in Genetics
Volume 6, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2015-03-23
DOI
10.3389/fgene.2015.00102
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。- Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
- (2014) Robert W. Taylor et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- The effect of small molecules on nuclear-encoded translation diseases
- (2013) Devorah Soiferman et al. BIOCHIMIE
- First-in-class cardiolipin-protective compound as a therapeutic agent to restore mitochondrial bioenergetics
- (2013) Hazel H Szeto BRITISH JOURNAL OF PHARMACOLOGY
- l-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders
- (2013) Graziela S. Ribas et al. GENE
- Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
- (2012) S. E. Calvo et al. Science Translational Medicine
- Mechanisms of mitochondrial diseases
- (2011) Emil Ylikallio et al. ANNALS OF MEDICINE
- Human diseases with impaired mitochondrial protein synthesis
- (2011) Agnès Rötig BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
- Toward genotype phenotype correlations in GFM1 mutations
- (2011) Louise Galmiche et al. MITOCHONDRION
- The Drosophila Mitochondrial Translation Elongation Factor G1 Contains a Nuclear Localization Signal and Inhibits Growth and DPP Signaling
- (2011) Catherine Trivigno et al. PLoS One
- Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
- (2010) John P. Kemp et al. BRAIN
- 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
- MitoP2: An Integrative Tool for the Analysis of the Mitochondrial Proteome
- (2008) Matthias Elstner et al. MOLECULAR BIOTECHNOLOGY
- Prevalence of mitochondrial DNA disease in adults
- (2007) Andrew M. Schaefer et al. ANNALS OF NEUROLOGY
- Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease
- (2007) Fernando Scaglia et al. MUSCLE & NERVE
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