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Human Mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. 983 - 989
ABSTRACT By way of whole‐exome sequencing, we identified a homozygous missense mutation in VARS2 in one subject with microcephaly and epilepsy associated with... 
aminoacyl tRNA syntethases | TARS2 | encephalomyopathy | VARS2 | OXPHOS defect | mitochondrial disease | Encephalomyopathy | Aminoacyl tRNA syntethases | Mitochondrial disease | CELLS | INVOLVEMENT | BRAIN-STEM | LEUKOENCEPHALOPATHY | GENE | DNA | GENETICS & HEREDITY | Mitochondria - enzymology | Saccharomyces cerevisiae - genetics | Humans | Mitochondrial Encephalomyopathies - enzymology | Infant | Male | Threonine-tRNA Ligase - genetics | HLA Antigens - genetics | RNA, Messenger - metabolism | Electron Transport Complex I - metabolism | Saccharomyces cerevisiae - metabolism | RNA, Transfer, Val - genetics | DNA, Mitochondrial - genetics | Mitochondria - genetics | Electron Transport Complex I - genetics | Isoenzymes - metabolism | Valine-tRNA Ligase - metabolism | Valine-tRNA Ligase - genetics | Child | RNA, Transfer, Thr - genetics | Fibroblasts - metabolism | Cell Line | DNA, Mitochondrial - metabolism | RNA, Transfer, Thr - metabolism | Isoenzymes - genetics | Mitochondrial Encephalomyopathies - genetics | RNA, Messenger - genetics | Mitochondria - pathology | HLA Antigens - metabolism | Polymorphism, Genetic | Mitochondrial Encephalomyopathies - pathology | RNA, Transfer, Val - metabolism | Homozygote | Heterozygote | Fibroblasts - cytology | Mutation | Threonine-tRNA Ligase - metabolism | Proteins | Care and treatment | Analysis | Epilepsy | Genetic aspects | Single nucleotide polymorphisms | Aminoacyl-tRNA synthetases | Transfer RNA
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 482 - 495
Journal Article
Journal Article
Neurotherapeutics, ISSN 1933-7213, 4/2013, Volume 10, Issue 2, pp. 186 - 198
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are... 
Neurology | Neurosciences | Biomedicine | Neurobiology | Mitochondrial encephalomyopathy | Mitochondrial neurogastrointestinal (MNGIE) disease | Mitochondrial myopathy | Neurosurgery | Hepatocerebral syndrome | Alpers-Huttenlocher syndrome | POLYMERASE-GAMMA-A | CORRECTS BIOCHEMICAL DERANGEMENTS | ONSET SPINOCEREBELLAR ATAXIA | NEUROSCIENCES | CLINICAL NEUROLOGY | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | RESPIRATORY-CHAIN DEFICIENCY | MULTIPLE MTDNA DELETIONS | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY MNGIE | ALPERS-SYNDROME | PHARMACOLOGY & PHARMACY | DEOXYGUANOSINE KINASE-DEFICIENCY | STEM-CELL TRANSPLANTATION | Mitochondrial Diseases - genetics | Liver Transplantation | DNA, Mitochondrial - metabolism | Humans | Mitochondrial Encephalomyopathies - genetics | DNA, Mitochondrial - physiology | Mutation - genetics | Nervous System Diseases - genetics | Nucleotides - metabolism | Mitochondrial Myopathies - pathology | Mitochondrial Myopathies - therapy | Nervous System Diseases - therapy | Mitochondrial Encephalomyopathies - pathology | Mutation - physiology | Mitochondrial Myopathies - genetics | DNA, Mitochondrial - genetics | Mitochondrial Encephalomyopathies - therapy | DNA Replication - physiology | DNA Replication - genetics | Nervous System Diseases - physiopathology | Mitochondrial Diseases - therapy | Mitochondrial Diseases - physiopathology | Nutritional Support | Thymidine - metabolism | Genetic aspects | Mitochondrial DNA | Health aspects | Genes | Medical genetics | Review
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 4, pp. 639 - 649
We investigated two male infant patients who were given a diagnosis of progressive mitochondrial encephalomyopathy on the basis of clinical, biochemical, and... 
OXIDATIVE-PHOSPHORYLATION | RELEASE | ATROPHY | AIF | GENETICS & HEREDITY | Humans | Caspase 3 - metabolism | Male | Muscle, Skeletal - metabolism | DNA Primers - chemistry | Muscle, Skeletal - cytology | Flavin-Adenine Dinucleotide - metabolism | DNA, Mitochondrial - genetics | Genes, X-Linked | Mitochondrial Encephalomyopathies - metabolism | Computer Simulation | Muscle, Skeletal - drug effects | Female | Electron Transport - physiology | Infant, Newborn | Apoptosis Inducing Factor - metabolism | Fibroblasts - metabolism | In Situ Nick-End Labeling | DNA, Mitochondrial - metabolism | Mitochondrial Encephalomyopathies - genetics | Nervous System Diseases - drug therapy | Mutation - genetics | Twins, Monozygotic | Apoptosis Inducing Factor - genetics | Mitochondrial Encephalomyopathies - pathology | Magnetic Resonance Imaging | Poly(ADP-ribose) Polymerases - metabolism | Pedigree | Fibroblasts - drug effects | Nervous System Diseases - etiology | Protein Conformation | Fibroblasts - cytology | Poly (ADP-Ribose) Polymerase-1 | Dietary Supplements | Staurosporine - pharmacology | Apoptosis | Riboflavin - administration & dosage | Vitamin B2 | Gene mutations | Analysis | Genetic aspects | Research | DNA binding proteins | Flavin adenine dinucleotide | Gene expression | Mitochondrial encephalomyopathies | Health aspects | Report
Journal Article