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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 | PROAPOPTOTIC STIMULI | ATROPHY | GENETICS & HEREDITY | PARTHANATOS | RELEASE | FACTOR AIF | 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 | Encephalitis | Genetics | Mutation | Genes | Deoxyribonucleic acid--DNA | Index Medicus | Report
Journal Article
Nature Medicine, ISSN 1078-8956, 08/2010, Volume 16, Issue 8, pp. 869 - 871
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2007, Volume 104, Issue 43, pp. 17016 - 17021
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1095 - 1102
Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. The disease locus was... 
MARIE-TOOTH-DISEASE | MENTAL-RETARDATION | GENETICS & HEREDITY | MOTOR-SENSORY NEUROPATHY | DEAFNESS | FACTOR AIF | CELL-DEATH | Neuroimaging | Exons | Humans | Apoptosis - genetics | Male | Muscle, Skeletal - metabolism | Mitochondria - ultrastructure | Charcot-Marie-Tooth Disease - genetics | Hearing Loss, Sensorineural - diagnosis | Mental Retardation, X-Linked - genetics | Apoptosis Inducing Factor - chemistry | Cell Nucleus - metabolism | Mitochondria - genetics | Base Sequence | Mental Retardation, X-Linked - diagnosis | Charcot-Marie-Tooth Disease - metabolism | Apoptosis Inducing Factor - metabolism | Hearing Loss, Sensorineural - metabolism | Oxidation-Reduction | Muscle, Skeletal - ultrastructure | Models, Molecular | Hearing Loss, Sensorineural - genetics | Mitochondria - metabolism | Apoptosis Inducing Factor - genetics | Protein Transport | Magnetic Resonance Imaging | Cell Nucleus - genetics | Pedigree | Brain - pathology | Protein Conformation | Muscle, Skeletal - pathology | Mutation | Charcot-Marie-Tooth Disease - diagnosis | Mental Retardation, X-Linked - metabolism | Charcot joints | Care and treatment | Research | Nucleotide sequencing | Gene mutations | DNA sequencing | Oxidases | Deafness | Nervous system diseases | Neurosciences | Genes | Genomics | Genetic research | Genetic aspects | Mitochondrial DNA | Apoptosis | Signal transduction | Phosphorylation | Neurological disorders | Genetic linkage | Index Medicus | Apoptosis-inducing factor | Cognitive ability | X chromosome | Infants | Neuropathy | Cytosol | NADH oxidase | Hereditary diseases | Mitochondria | Oxidative phosphorylation | Electron transport | Redox properties | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 831 - 845
ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid... 
de novo variant | optic atrophy | neuropathy | CNV | cardiomyopathy | whole-exome sequencing | ATAD3A | dominant negative | mitochondrial dynamics | LOSS-OF-FUNCTION | DROSOPHILA-MELANOGASTER | GENOMIC DISORDERS | DOMAIN-CONTAINING 3A | GENETICS & HEREDITY | DEVELOPMENTAL DELAY | TRANSMISSION GENETICS | MOLECULAR FINDINGS | OPTIC ATROPHY | CPG DINUCLEOTIDES | COPY-NUMBER VARIATION | Neurons - pathology | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Mitochondrial Proteins - genetics | Nervous System Diseases - genetics | Drosophila melanogaster - genetics | Muscles - pathology | Young Adult | Cardiomyopathies - genetics | Fibroblasts | Adult | Female | Nervous System Diseases - metabolism | Child | Infant, Newborn | Nervous System Diseases - pathology | Optic Atrophy - genetics | ATPases Associated with Diverse Cellular Activities | Muscle Hypotonia - genetics | Membrane Proteins - genetics | DNA Copy Number Variations - genetics | Mitochondria - metabolism | Mitochondria - pathology | Syndrome | Homozygote | Phenotype | Animals | Axons - pathology | Alleles | Polymorphism, Single Nucleotide - genetics | Adenosine Triphosphatases - genetics | Mutation | Allelomorphism | Nervous system diseases | Genetic aspects | Genetic variation | Health aspects | Adenosine triphosphatase | Proteins | Genotype & phenotype | Genetics | Mitochondria | Membranes | Neurological disorders | Index Medicus
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 11/2018, Volume 10, Issue 11, pp. e8799 - n/a
Journal Article
Human Mutation, ISSN 1059-7794, 12/2013, Volume 34, Issue 12, pp. 1619 - 1622
Journal Article