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Journal Article
Human Mutation, ISSN 1059-7794, 12/2013, Volume 34, Issue 12, pp. 1619 - 1622
Journal Article
Nature Communications, ISSN 2041-1723, 07/2014, Volume 5, Issue 1, p. 4287
Journal Article
Human Mutation, ISSN 1059-7794, 11/2013, Volume 34, Issue 11, pp. 1501 - 1509
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2012, Volume 49, Issue 9, pp. 569 - 577
Background Isolated complex II deficiency is a rare form of mitochondrial disease, accounting for approximately 2% of all respiratory chain deficiency... 
YEAST | SUCCINATE-DEHYDROGENASE | PROTEIN | PHEOCHROMOCYTOMA | LEIGH-SYNDROME | FLAVOPROTEIN GENE | GENETICS & HEREDITY | TUMOR-SUPPRESSOR | PARAGANGLIOMA | MISSENSE MUTATIONS | SUBUNIT | Electron Transport | Leukoencephalopathies - genetics | Genes, Recessive - genetics | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Succinate Dehydrogenase - chemistry | Metabolism, Inborn Errors - enzymology | Germ-Line Mutation - genetics | Genetic Complementation Test | Saccharomyces cerevisiae - metabolism | Mitochondrial Diseases - complications | Base Sequence | Female | Electron Transport Complex II - chemistry | Infant, Newborn | Mitochondrial Diseases - genetics | Amino Acid Sequence | Electron Transport Complex II - genetics | Mutation - genetics | Metabolism, Inborn Errors - genetics | Blotting, Western | Mitochondrial Diseases - enzymology | Magnetic Resonance Imaging | Succinate Dehydrogenase - genetics | Brain - pathology | Leukoencephalopathies - complications | Electron Transport Complex II - deficiency | Muscle, Skeletal - pathology | Metabolism, Inborn Errors - complications | Gene mutations | Succinate dehydrogenase complex | Genetic aspects | Mitochondrial diseases | Research | Diagnosis | Risk factors | counselling | Neurology | 1506 | Genotype-Phenotype Correlations | Mitochondrial disease | Genetic screening
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1079 - 1087
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 14
Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of... 
Pathogens | Charging | Aminoacylation | tRNA | Cardiomyopathy | Disorders | Amino acids | Homology | Protein biosynthesis | Patients | Defects | Proteins | Pathogenicity | Mitochondria | Protein synthesis | Fibroblasts | Electron transport | Glutamine
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 2014, Volume 82, Issue 23, pp. 2063 - 2071
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 860 - 876
Mutations in SLC25A4 encoding the mitochondrial ADP/ATP carrier AAC1 are well-recognized causes of mitochondrial disease. Several heterozygous SLC25A4... 
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | RESPIRATORY-CHAIN | ANT1 GENE | SUBSTRATE-BINDING SITE | ADENINE-NUCLEOTIDE TRANSLOCATOR | TRANSPORT MECHANISM | GENETICS & HEREDITY | FUNCTIONAL-CHARACTERIZATION | ADP/ATP CARRIER | SACCHAROMYCES-CEREVISIAE | BACTERIAL EXPRESSION
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2008, Volume 82, Issue 6, pp. 1281 - 1289
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 211 - 223
Journal Article
Journal Article