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Journal of inherited metabolic disease, ISSN 0141-8955, 2012, Volume 35, Issue 2, pp. 211 - 225
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Biological and medical sciences | Metabolic diseases | Medical sciences | Medical genetics | Mitochondrial Proton-Translocating ATPases - genetics | Mitochondria - enzymology | Animals | Mitochondria - genetics | Adenosine Triphosphate - metabolism | Humans | Adenosine Diphosphate - metabolism | Mitochondria - pathology | Mitochondrial Proton-Translocating ATPases - metabolism | Oligomers | Index Medicus | Review
Journal Article
Nature communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 14
Pathogens | Charging | Aminoacylation | tRNA | Cardiomyopathy | Disorders | Amino acids | Homology | Protein biosynthesis | Patients | Defects | Proteins | Pathogenicity | Mitochondria | Protein synthesis | Fibroblasts | Electron transport | Glutamine | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 12, pp. 1721 - 1726
genome diagnostics | exome sequencing | NGS | heterogeneous diseases | diagnostic yield | Diagnostic yield | Heterogeneous diseases | Genome diagnostics | Exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Genetic Testing | Humans | Genetic Diseases, Inborn - genetics | Sequence Analysis, DNA - standards | High-Throughput Nucleotide Sequencing - methods | Genetic Counseling | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | High-Throughput Nucleotide Sequencing - standards | Comparative analysis | Nucleotide sequencing | DNA sequencing | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 04/2011, Volume 88, Issue 4, pp. 488 - 493
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Heart | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Myocarditis. Cardiomyopathies | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Fibroblasts - enzymology | Humans | Open Reading Frames | Protein Multimerization | Molecular Sequence Data | Electrophoresis, Gel, Two-Dimensional | Male | Mutation, Missense | Electron Transport Complex IV - chemistry | Cardiomyopathies - enzymology | Genetic Complementation Test | Electron Transport Complex IV - metabolism | Cardiomyopathies - genetics | DNA Mutational Analysis | Base Sequence | Fatal Outcome | Female | Infant, Newborn | Mitochondrial Diseases - genetics | Amino Acid Sequence | Mitochondrial Diseases - enzymology | Sequence Homology, Amino Acid | Homozygote | Pedigree | Consanguinity | Amino Acid Substitution | Gene mutations | Cardiomyopathy | Cytochrome oxidase | Causes of | Genetic aspects | Research | Brewer's yeast | Health aspects | Heart diseases | Studies | Proteins | Pathogens | Membranes | Genes | Cardiovascular disease | Mutation | Index Medicus | Report
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 2011, Volume 34, Issue 2, pp. 283 - 292
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Mitochondrial Diseases - genetics | Biopsy - methods | Mitochondria, Muscle - pathology | Humans | Cells, Cultured | Oxidative Phosphorylation | Genotype | Genetic Variation | Animals | Time Factors | Models, Biological | Oxygen - chemistry | Fibroblasts - cytology | Adenosine Triphosphate - chemistry | Mitochondrial Diseases - diagnosis | Enzymes | Analysis | Mitochondrial DNA | Index Medicus | Mitochondrial Medicine
Journal Article
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 1, pp. 34 - 38
OXPHOS | cytochrome c oxidase | cardiomyopathy | C1ORF31 | COA6 | Cytochrome c oxidase | Cardiomyopathy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cardiomyopathy, Hypertrophic - genetics | Humans | HEK293 Cells | Copper - administration & dosage | Female | Mitochondria - metabolism | Electron Transport Complex IV - genetics | Cardiomyopathy, Hypertrophic - drug therapy | Cytochrome-c Oxidase Deficiency - genetics | Infant, Newborn | Cardiomyopathy, Hypertrophic - pathology | Electron Transport Complex IV - metabolism | Cytochrome c | Infants (Newborn) | Cardiomyopathy, Hypertrophic | Analysis | Cytochrome oxidase | Genetic aspects | Mitochondrial DNA | Cytochrome | Fibroblasts | Mutation | Index Medicus
Journal Article
Biochimica et biophysica acta. Bioenergetics, ISSN 0005-2728, 2016, Volume 1857, Issue 7, pp. 938 - 945
Complex I | Enzyme measurement | mtDNA | Whole exome sequencing | Mitochondrial disease | Biochemistry & Molecular Biology | Biophysics | Life Sciences & Biomedicine | Science & Technology | Biomarkers - metabolism | Developmental Disabilities | Cataract | Genetic Predisposition to Disease - genetics | Models, Chemical | Mitochondrial Myopathies | Humans | Electron Transport Complex I - metabolism | Molecular Dynamics Simulation | Electron Transport Complex I - chemistry | Mitochondria | Electron Transport Complex I - genetics | Protein Conformation | Enzyme Activation | Mutation | Hearing Loss | Enzymes | Genes | Genomics | Genetic screening
Journal Article
Cell metabolism, ISSN 1550-4131, 09/2015, Volume 22, Issue 3, pp. 399 - 407
Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Electron Transport Complex III - metabolism | Humans | Hydroxymethylglutaryl-CoA Reductase Inhibitors - chemistry | Muscles - pathology | Myoblasts - drug effects | Myoblasts - metabolism | Adenosine Triphosphate - metabolism | Cell Respiration - drug effects | Muscular Diseases - chemically induced | Muscles - metabolism | Lactones - chemistry | Cell Line | Muscular Diseases - metabolism | Cells, Cultured | Models, Molecular | Mitochondria - metabolism | Muscular Diseases - pathology | Lactones - adverse effects | Mitochondria - drug effects | Mitochondria - pathology | Myoblasts - pathology | Animals | Hydroxymethylglutaryl-CoA Reductase Inhibitors - adverse effects | Electron Transport Complex III - antagonists & inhibitors | Muscles - drug effects | Mice | Muscles - cytology | Enzymes | Cytochrome b | Statins | Lactones | Cardiovascular agents | Index Medicus
Journal Article