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Molecular Syndromology, ISSN 1661-8769, 07/2014, Volume 5, Issue 3-4, pp. 156 - 162
Coenzyme Q10 (CoQ10) is an essential component of eukaryotic cells and is involved in crucial biochemical reactions such as the production of ATP in the... 
Further Section | Respiratory chain disorders | COQ genes | Primary CoQ10 deficiency | May, 2014 | Published online | Coenzyme Q10 | CoQ10
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2014, Volume 38, Issue 1, pp. 145 - 156
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2011, Volume 121, Issue 5, pp. 2013 - 2024
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some... 
MEDICINE, RESEARCH & EXPERIMENTAL | OXIDATIVE STRESS | GENE | COENZYME-Q BIOSYNTHESIS | DIPHOSPHATE SYNTHASE SUBUNIT-2 | NPHS2 | GLOMERULAR PROTEIN | UBIQUINONE BIOSYNTHESIS | COQ DEFICIENCY | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | SACCHAROMYCES-CEREVISIAE | Deafness | Gene mutations | Genetic aspects | Nephrotic syndrome | Research | Health aspects | Risk factors
Journal Article
Human Mutation, ISSN 1059-7794, 03/2018, Volume 39, Issue 3, pp. 406 - 414
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2012, Volume 49, Issue 3, pp. 187 - 191
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2013, Volume 36, Issue 1, pp. 43 - 53
Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset encephalopathy with signs of... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | PROGRESSIVE CEREBELLOCEREBRAL ATROPHY | MANAGEMENT | GENE | TRANSFER-RNA-SYNTHETASES | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | DISORDERS | MITOCHONDRIAL DISEASE | CONTINUOUS SPECTROPHOTOMETRIC ASSAY | Seizures - blood | Microcephaly - genetics | Seizures - genetics | Follow-Up Studies | Intellectual Disability - cerebrospinal fluid | Lactic Acid - blood | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Infant | Male | Cerebellum - enzymology | Olivopontocerebellar Atrophies - metabolism | Spasms, Infantile - genetics | Cerebellum - physiology | Intellectual Disability - genetics | Intellectual Disability - blood | Arginine-tRNA Ligase - genetics | Psychomotor Disorders - genetics | Microcephaly - blood | Mitochondria - genetics | Lennox Gastaut Syndrome | Microcephaly - cerebrospinal fluid | Female | Spasms, Infantile - blood | Infant, Newborn | Neuroimaging - methods | Olivopontocerebellar Atrophies - enzymology | Cerebellum - pathology | Olivopontocerebellar Atrophies - diagnosis | Lactic Acid - cerebrospinal fluid | Olivopontocerebellar Atrophies - genetics | Seizures - cerebrospinal fluid | Mutation | Spasms, Infantile - cerebrospinal fluid | Lactates | Medical research | Nervous system diseases | Neurosciences | Ligases | Genes | Medical genetics | Medicine, Experimental | Development and progression | Genetic aspects | Seizures (Medicine) | Transfer RNA | Cerebellum | Neuroimaging | Neonates | Phosphorylation | Aminoacylation | Epilepsy | Cerebrospinal fluid | Atrophy | Mitochondria | Arginine | Encephalopathy | Fibroblasts | Complementation | Seizures | Hypoplasia | Enzymes | Medical imaging | tRNA Arg | Cortex | Ribonucleic acid--RNA | Microencephaly | Magnetic resonance imaging | Oxidative phosphorylation | Biopsy | Lactic acid | Electron transport
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 11/2018, Volume 1864, Issue 11, p. 3629
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/j.bbadis.2018.08.032... 
Phosphates | Gene mutations | Analysis | Genetic aspects | Catalysis
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2017, Volume 12, Issue 1, pp. 1 - 10
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 21 - 21
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 01/2014, Volume 1842, Issue 1, pp. 1 - 6
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 11/2018, Volume 1864, Issue 11, pp. 3629 - 3638
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/2009, Volume 284, Issue 42, pp. 28926 - 28934
Journal Article