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life sciences & biomedicine (9) 9
science & technology (9) 9
humans (7) 7
mitochondrial dna (6) 6
adult (5) 5
age of onset (4) 4
female (4) 4
genetics (4) 4
male (4) 4
middle aged (4) 4
mutation (4) 4
dna, mitochondrial - genetics (3) 3
epigenetics (3) 3
leber hereditary optic neuropathy (3) 3
mitochondria (3) 3
neurosciences (3) 3
neurosciences & neurology (3) 3
point mutation (3) 3
tobacco (3) 3
alcohol (2) 2
alcohol drinking - epidemiology (2) 2
biopsy (2) 2
deoxyribonucleic acid--dna (2) 2
diagnosis (2) 2
eye diseases (2) 2
gene therapy (2) 2
general & internal medicine (2) 2
genetic structures (2) 2
genetics & heredity (2) 2
heterozygote (2) 2
magnetic resonance imaging (2) 2
medicine, general & internal (2) 2
mitochondrial disease (2) 2
mitochondrial diseases - diagnosis (2) 2
mitochondrial diseases - genetics (2) 2
neurology (2) 2
optic atrophy, hereditary, leber - epidemiology (2) 2
optic atrophy, hereditary, leber - genetics (2) 2
phenotype (2) 2
smoking - epidemiology (2) 2
supplementation (2) 2
abdomen (1) 1
abridged index medicus (1) 1
acquisitions & mergers (1) 1
adolescent (1) 1
age (1) 1
aged (1) 1
aged, 80 and over (1) 1
alcohol drinking - adverse effects (1) 1
alcohol drinking - genetics (1) 1
alcohols (1) 1
arsacs (1) 1
ataxia (1) 1
azathioprine (1) 1
azathioprine - adverse effects (1) 1
base sequence (1) 1
biological and medical sciences (1) 1
biotechnology & applied microbiology (1) 1
cardiac & cardiovascular systems (1) 1
cardiac tagging (1) 1
cardiomyopathies - diagnosis (1) 1
cardiomyopathies - genetics (1) 1
cardiomyopathy (1) 1
cardiovascular system & cardiology (1) 1
case report (1) 1
case-control studies (1) 1
cell & tissue engineering (1) 1
cell biology (1) 1
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citric acid (1) 1
clinical neurology (1) 1
cofactors (1) 1
cohort studies (1) 1
comparative genomic hybridisation (1) 1
comparative genomic hybridization (1) 1
complications and side effects (1) 1
contrast media (1) 1
copy number (1) 1
cranial nerves. spinal roots. peripheral nerves. autonomic nervous system. gustation. olfaction (1) 1
crohn disease - diagnosis (1) 1
crohn's disease (1) 1
crohn’s disease (1) 1
culture media (1) 1
cytochrome-c oxidase deficiency - complications (1) 1
databases, nucleic acid (1) 1
deglutition disorders - complications (1) 1
dementia with lewy bodies (1) 1
deoxyuridine - blood (1) 1
deoxyuridine - urine (1) 1
diagnosis, differential (1) 1
diarrhea (1) 1
dietary supplements (1) 1
disease (1) 1
dna methylation (1) 1
dna-directed dna polymerase (1) 1
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1. Full Text Mitochondrial genetics
by Chinnery, Patrick Francis and Hudson, Gavin
British medical bulletin, ISSN 0007-1420, 06/2013, Volume 106, Issue 1, pp. 135 - 159
genetics | mtDNA | mitochondria | mitochondrial DNA | mitochondrial disease | Mitochondrial Diseases - genetics | DNA, Mitochondrial - genetics | Mitochondria - genetics | Humans | Mutation | Mitochondria - physiology | Databases, Nucleic Acid | Mitochondrial Diseases - diagnosis | Index Medicus | DNA-directed DNA polymerase
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2. Full Text Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients
by Dimitriadis, Konstantin and Leonhardt, Miriam and Yu-Wai-Man, Patrick and Kirkman, Matthew A.nthony and Korsten, Alex and De Coo, Irenaeus F and Chinnery, Patrick F.rancis and Klopstock, Thomas
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, pp. 158 - 158
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Humans | Middle Aged | Optic Atrophy, Hereditary, Leber - epidemiology | Male | Optic Atrophy, Hereditary, Leber - genetics | Smoking - genetics | Alcohol Drinking - genetics | Alcohol Drinking - epidemiology | Smoking - epidemiology | Age of Onset | Adult | Female | Optic Atrophy, Hereditary, Leber - diagnosis | Illegal drugs | Alcohols | Studies | Neurology | Tobacco | Disease | Mitochondrial DNA | Mutation | Drug therapy | Patients | Age | Acquisitions & mergers | Smoking | Index Medicus
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3. Full Text Mitochondrial genetics
by Chinnery, Patrick Francis and Hudson, Gavin
British medical bulletin, ISSN 0007-1420, 06/2013, Volume 106, Issue 1, pp. 135 - 159
Life Sciences & Biomedicine | Medicine, General & Internal | General & Internal Medicine | Science & Technology
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4. Full Text Mitochondrial neurogastrointestinal encephalopathy: A clinicopathological mimic of Crohn's disease
by Patel, Ravi and Coulter, Lucia Lee and Rimmer, Joanna and Parkes, Miles and Chinnery, Patrick Francis and Swift, Oscar
BMC gastroenterology, ISSN 1471-230X, 01/2019, Volume 19, Issue 1, pp. 11 - 11
Inflammatory bowel disease | Inherited mitochondrial disorders | Mitochondrial neurogastrointestinal encephalopathy | Crohn's disease | Azathioprine | Leukoencephalopathy | Thymidine phosphorylase | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Deoxyuridine - blood | Diagnosis, Differential | Humans | Mitochondrial Encephalomyopathies - diagnosis | Thymidine - urine | Gastrointestinal Diseases - diagnosis | White Matter - pathology | Mitochondrial Encephalomyopathies - pathology | Point Mutation | Phenotype | Thymidine - blood | Thymidine Phosphorylase - genetics | Age of Onset | Crohn Disease - diagnosis | Deoxyuridine - urine | Gastrointestinal Diseases - pathology | Adult | Female | Retrospective Studies | Azathioprine - adverse effects | Complications and side effects | Medical research | Usage | Encephalopathy | Gastrointestinal system | Medicine, Experimental | Dosage and administration | Health aspects | Neuroimaging | Headache | Nuclear magnetic resonance--NMR | Transplants & implants | Liver | Genomes | Mitochondrial DNA | Thymidine | Genetic screening | Pain | Vomiting | Supplementation | Diagnosis | Deoxyribonucleic acid--DNA | Urine | Edema | Phenotypes | Diarrhea | Mesentery | Myalgia | Nucleic acids | Substantia alba | Pharynx | Fever | Phosphorylase | Abdomen | Magnetic resonance imaging | Biopsy | Pharyngitis | Mutation | Genetic testing | Index Medicus | Crohn’s disease
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5. Full Text Gene-environment interactions in Leber hereditary optic neuropathy
by Kirkman, M.A and Yu-Wai-Man, Patrick and Korsten, Alex and Leonhardt, Miriam and Dimitriadis, Konstantin and Coo, René and Klopstock, Thomas and Chinnery, P.F
Brain (London, England : 1878), ISSN 0006-8950, 09/2009, Volume 132, Issue 9, pp. 2317 - 2326
Epigenetics | Alcohol | Leber hereditary optic neuropathy | Tobacco | Mitochondrial DNA | Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction | Neurology | Biological and medical sciences | Medical sciences | Nervous system (semeiology, syndromes) | Smoking - adverse effects | Optic Atrophy, Hereditary, Leber - complications | Humans | Middle Aged | Netherlands - epidemiology | Male | Optic Atrophy, Hereditary, Leber - genetics | Young Adult | DNA, Mitochondrial - genetics | England - epidemiology | Aged, 80 and over | Adult | Female | Optic Atrophy, Hereditary, Leber - epidemiology | Penetrance | Alcohol Drinking - adverse effects | Germany - epidemiology | Point Mutation | Alcohol Drinking - epidemiology | Epidemiologic Methods | Smoking - epidemiology | Adolescent | Age of Onset | Heterozygote | Aged | Vision Disorders - epidemiology | Vision Disorders - etiology | Index Medicus | Abridged Index Medicus | alcohol | tobacco | Original | mitochondrial DNA | epigenetics
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6. Full Text Geneenvironment interactions in Leber hereditary optic neuropathy
by Kirkman, Matthew Anthony and Yu-Wai-Man, Patrick and Korsten, Alex and Leonhardt, Miriam and Dimitriadis, Konstantin and De Coo, Ireneaus F and Klopstock, Thomas and Chinnery, Patrick Francis
Brain (London, England : 1878), ISSN 0006-8950, 2009, Volume 132, Issue 9, pp. 2317 - 2326
Epigenetics | Alcohol | Leber hereditary optic neuropathy | Tobacco | Mitochondrial DNA | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology
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7. Genetics and genomics in medicine
by Strachan, T and Goodship, J. author. (Judith) and Chinnery, Patrick F., author
2015, ISBN 9780815344803, xvii, 526 pages
Genetic Phenomena | Genetic Diseases, Inborn | Genetic disorders | Genomics | therapy | Precision Medicine
Book
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8. Full Text Diagnosis and treatment of mitochondrial myopathies
by Pfeffer, Gerald and Chinnery, Patrick F
Annals of medicine (Helsinki), ISSN 0785-3890, 02/2013, Volume 45, Issue 1, pp. 4 - 16
treatment | mitochondrial myopathy | Diagnosis | mitochondrial disorders | Mitochondrial disorders | Mitochondrial myopathy | Treatment | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Cytochrome-c Oxidase Deficiency - complications | Muscle, Skeletal - enzymology | Mitochondrial Myopathies - complications | Humans | Ubiquinone - analogs & derivatives | Ubiquinone - deficiency | Vitamins - therapeutic use | Exercise Therapy | Mitochondrial Myopathies - therapy | Heart Diseases - diagnosis | Vision Disorders - complications | Deglutition Disorders - complications | Exercise Test | Biopsy | Heart Diseases - complications | Mitochondrial Myopathies - enzymology | Ubiquinone - therapeutic use | Heart Diseases - drug therapy | Hearing Disorders - complications | Mitochondrial Myopathies - diagnosis | Muscle, Skeletal - pathology | Dietary Supplements | Endocrine System Diseases - drug therapy | Endocrine System Diseases - complications | Index Medicus | Review
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9. Full Text Epigenetic regulation in the pathophysiology of Lewy body dementia
by Chouliaras, Leonidas and Kumar, Gautham S and Thomas, Alan J and Lunnon, Katie and Chinnery, Patrick F and O’Brien, John T
Progress in neurobiology, ISSN 0301-0082, 09/2020, Volume 192, pp. 101822 - 101822
Epigenetics | DNA methylation | Genetics | Lewy body dementia | Dementia with Lewy bodies | Parkinson’s disease dementia | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Index Medicus
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