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Neurology, ISSN 0028-3878, 07/2013, Volume 81, Issue 3, pp. 281 - 291
This lecture honors the memory of Robert Wartenberg, who was born in Lithuania, trained in Germany, and in 1935 moved to the United States, where he started... 
DNA MUTATION | MTDNA | PHOSPHATIDYLCHOLINE BIOSYNTHESIS | HETEROPLASMY | DISEASE | MUSCULAR-DYSTROPHY | DYNAMICS | MUSCLE | HEREDITARY OPTIC NEUROPATHY | DELETIONS | CLINICAL NEUROLOGY | Mitochondrial Encephalomyopathies - pathology | Mitochondria - metabolism | Mitochondrial Encephalomyopathies - metabolism | Mitochondria - pathology | Humans
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
Nature, ISSN 0028-0836, 08/2015, Volume 524, Issue 7564, pp. 234 - 238
Journal Article
Journal Article
Brain, ISSN 0006-8950, 2007, Volume 130, Issue 3, pp. 862 - 874
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
Journal Article
Neurology, ISSN 0028-3878, 08/2005, Volume 65, Issue 4, pp. 606 - 608
Journal Article
Bioscience, Biotechnology, and Biochemistry, ISSN 0916-8451, 01/2016, Volume 80, Issue 1, pp. 23 - 33
Coenzyme Q (CoQ) is a component of the electron transport chain that participates in aerobic cellular respiration to produce ATP. In addition, CoQ acts as an... 
ubiquinone | Arabidopsis | human | yeast | coenzyme Q | Human | Coenzyme Q | Ubiquinone | Yeast | DECAPRENYL DIPHOSPHATE SYNTHASE | FISSION YEAST | BIOCHEMISTRY & MOLECULAR BIOLOGY | FOOD SCIENCE & TECHNOLOGY | ESCHERICHIA-COLI | CHAIN-LENGTH DETERMINATION | SACCHAROMYCES-CEREVISIAE | OCTAPRENYL PYROPHOSPHATE SYNTHASE | CAENORHABDITIS-ELEGANS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | PARA-AMINOBENZOIC ACID | UBIQUINONE BIOSYNTHESIS | C-METHYLTRANSFERASE | CHEMISTRY, APPLIED | Electron Transport | Cerebellar Ataxia - metabolism | Saccharomyces cerevisiae - genetics | Humans | Methyltransferases - metabolism | Ubiquinone - deficiency | Methyltransferases - genetics | Mixed Function Oxygenases - metabolism | Mitochondrial Proteins - genetics | Adenosine Triphosphate - biosynthesis | Ubiquinone - biosynthesis | Saccharomyces cerevisiae - metabolism | Mitochondrial Encephalomyopathies - metabolism | Plants - genetics | Mitochondrial Proteins - metabolism | Escherichia coli - metabolism | Oxidation-Reduction | Mitochondrial Encephalomyopathies - genetics | Gene Expression Regulation | Electron Transport Chain Complex Proteins - genetics | Ubiquinone - genetics | Cerebellar Ataxia - pathology | Mitochondrial Encephalomyopathies - pathology | Plants - metabolism | Cerebellar Ataxia - genetics | Escherichia coli - genetics | Electron Transport Chain Complex Proteins - metabolism | Mixed Function Oxygenases - genetics
Journal Article