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Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 255 - 262
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 05/2018, Volume 22, Issue 3, pp. 369 - 379
Journal Article
Nature, ISSN 0028-0836, 04/2010, Volume 464, Issue 7290, pp. 927 - 931
Journal Article
Human Mutation, ISSN 1059-7794, 01/2018, Volume 39, Issue 1, pp. 69 - 79
Primary coenzyme Q10 (CoQ10; MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a... 
cerebellar ataxia | encephalopathy | next‐generation sequencing | CoQ10 | COQ5 | personalized medicine | next-generation sequencing | RESPIRATORY-CHAIN | EXOME | RESISTANT NEPHROTIC SYNDROME | Q DEFICIENCY | MYOPATHY | GENOME | MITOCHONDRIAL ENCEPHALOMYOPATHY | GENE | MUSCLE-FIBERS | GENETICS & HEREDITY | MUTATIONS | Electron Transport | Cerebellar Ataxia - metabolism | Cerebellar Ataxia - diet therapy | Humans | Methyltransferases - genetics | Mitochondrial Proteins - genetics | Muscles - pathology | DNA Copy Number Variations | Methyltransferases - deficiency | Ubiquinone - biosynthesis | Biosynthetic Pathways - genetics | Mitochondrial Encephalomyopathies - metabolism | Female | Mitochondrial Proteins - deficiency | Fibroblasts - metabolism | Siblings | Genetic Association Studies | Mitochondrial Encephalomyopathies - genetics | Ubiquinone - analogs & derivatives | Oxygen Consumption | Mitochondrial Encephalomyopathies - diagnosis | Mitochondrial Encephalomyopathies - diet therapy | Cerebellar Ataxia - genetics | Biopsy | Pedigree | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Cerebellar Ataxia - diagnosis | Dietary Supplements | Leukocytes - metabolism | Medical research | Cerebellar ataxia | Transferases | Genomics | Physiological aspects | Medicine, Experimental | Genetic research | Research institutes | Seizures (Medicine) | Methylation | Cerebellum | Blood cells | Methyltransferase | Cognitive ability | Genomes | Biosynthesis | Leukocytes | Mitochondria | Coenzyme Q10 | Encephalopathy | Ataxia | Mutation | Supplementation | Seizures | next generation sequencing
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