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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
Journal Article
Human Mutation, ISSN 1059-7794, 08/2017, Volume 38, Issue 8, pp. 970 - 977
Journal Article
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 12/2018, Volume 9, p. 625
Mitochondrial Fission Factor (MFF) is part of a protein complex that promotes mitochondria and peroxisome fission. Hitherto, only 5 patients have been reported... 
mitochondrial fission factor | mitochondria | GENETICS & HEREDITY | DYNAMICS | peroxisome | DLP1 | MFF | leigh syndrome | mitochondrial disorders | epileptic encephalopathy | REVEALS | Usage | Gene mutations | Magnetic resonance imaging | Encephalopathy | Mitochondrial diseases | Genetic aspects | Research | Diagnosis
Journal Article
Human Mutation, ISSN 1059-7794, 09/2016, Volume 37, Issue 9, pp. 898 - 903
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2017, Volume 12, Issue 1, pp. 1 - 10
Journal Article
BBA - Bioenergetics, ISSN 0005-2728, 08/2016, Volume 1857, Issue 8, pp. 1326 - 1335
Journal Article
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 07/2015, Volume 7, Issue 7, pp. 918 - 929
We studied two monozygotic twins, born to first cousins, affected by a multisystem disease. At birth, they both presented with bilateral cryptorchidism and... 
Cerebellum | Transcription | Gait | Laboratories | Nonsense mutation | Cardiomyopathy | DNA damage | Cognitive ability | Alcohol | Lethality | Malignancy | Kinases | Experiments | DNA repair | Dwarfism | Proteins | Cell cycle | Fibroblasts | Deoxyribonucleic acid--DNA | Medical research | Immunoglobulins | Immunodeficiency | Cryptorchidism | Stop codon | Double-strand break repair | Embryos | Neurological complications | Software | Skin | Mutation | Twins
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 02/2014, Volume 6, Issue 2, pp. 169 - 182
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 2014, Volume 5, p. 397
Isolated complex III (cIII) deficiency is a rare biochemical finding in mitochondrial disorders, mainly associated with mutations in mitochondrial DNA MTCYB... 
Encephalomyopathy | Complex III deficiency | Mitochondrial diseases | Bilateral basal ganglia lesions | Ttc19 | Novel mutation | Mitochondrial Diseases | TTC19 | novel mutations
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2015, Volume 5, Issue C, pp. 51 - 54
Mitochondrial disease involving complex II is rare among respiratory chain deficiencies and its genetic cause remains often unknown. Two main clinical... 
SDHB | Leukoencephalopathy | Mitochondrial disorder | Mitochondrial complex II
Journal Article