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Journal of neuropathology and experimental neurology, ISSN 0022-3069, 02/2013, Volume 72, Issue 2, pp. 78 - 90
Spinal cord | Frataxin | Friedreich ataxia | Iron | Dorsal root ganglion | Dentate nucleus | Sural nerve | Pathology | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Friedreich Ataxia - pathology | Humans | Atrophy - pathology | Ganglia, Spinal - pathology | Trinucleotide Repeat Expansion - genetics | Iron-Binding Proteins - genetics | GABAergic Neurons - pathology | Atrophy - etiology | Cerebellar Nuclei - pathology | Iron-Binding Proteins - metabolism | Pyramidal Tracts - pathology | Friedreich Ataxia - genetics | Proteins | Heart | Genotype & phenotype | Pathogenesis | Ataxia | Mutation | Alliances | Genetic testing | Gene expression | Patients | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
The New England journal of medicine, ISSN 0028-4793, 02/2012, Volume 366, Issue 7, pp. 636 - 646
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Ataxia Telangiectasia - diagnosis | Ataxia Telangiectasia - therapy | Cerebellar Ataxia - genetics | Cerebellar Ataxia - therapy | Humans | Friedreich Ataxia - diagnosis | Friedreich Ataxia - therapy | Ataxia Telangiectasia - genetics | Biomarkers - blood | Cerebellar Ataxia - diagnosis | Genes, Recessive | Friedreich Ataxia - genetics | Usage | Care and treatment | Cerebellar ataxia | Causes of | Nervous system | Genetic aspects | Neurologic examination | Degeneration | Diagnosis | Genetic screening | Methods | Cerebellum | Nuclear magnetic resonance--NMR | Gait | Disease | Neurodegenerative diseases | Cardiomyopathy | Metabolism | Patients | Atrophy | Proteins | Signs | Ataxia | Age | Index Medicus | Abridged Index Medicus
Journal Article
Journal of the neurological sciences, ISSN 0022-510X, 2011, Volume 307, Issue 1, pp. 46 - 49
Neurology | Cerebellum | Echocardiogram | Neurodegenerative disease | Arrhythmia | Cardiomyopathy | Sensory | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Arrhythmias, Cardiac - mortality | Humans | Middle Aged | Male | Case-Control Studies | Friedreich Ataxia - genetics | Young Adult | Aged, 80 and over | Adult | Cardiomyopathy, Dilated - diagnosis | Female | Friedreich Ataxia - mortality | Heart Failure - diagnosis | Retrospective Studies | Arrhythmias, Cardiac - genetics | Cardiomyopathy, Dilated - mortality | Heart Failure - mortality | Cardiomyopathy, Dilated - genetics | Comorbidity | Heart Failure - genetics | Heart Diseases - diagnosis | Heart Diseases - mortality | Adolescent | Aged | Arrhythmias, Cardiac - diagnosis | Heart Diseases - genetics | Cohort Studies | Ataxia | Health aspects | Mortality | Index Medicus
Journal Article
Lancet neurology, ISSN 1474-4422, 2016, Volume 15, Issue 13, pp. 1346 - 1354
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | Prognosis | Outcome Assessment (Health Care) | Europe | Humans | Middle Aged | Friedreich Ataxia - diagnosis | Male | Disease Progression | Friedreich Ataxia - genetics | Activities of Daily Living | Friedreich Ataxia - physiopathology | Age of Onset | Adult | Female | Registries | Cohort Studies | Ataxia | Development and progression | Nervous system diseases | Neurosciences | Analysis | Studies | Consortia | Activities of daily living | Cardiomyopathy | Clinical trials | Inventory | Quality of life | Index Medicus
Journal Article
The American heart journal, ISSN 0002-8703, 2011, Volume 161, Issue 3, pp. 639 - 645.e1
Cardiovascular | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Cardiology. Vascular system | Heart | Neurology | Cerebrospinal fluid. Meninges. Spinal cord | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Biological and medical sciences | Myocarditis. Cardiomyopathies | Medical sciences | Nervous system (semeiology, syndromes) | Humans | Male | Cardiomyopathy, Hypertrophic - complications | Cardiomyopathy, Hypertrophic - drug therapy | Ubiquinone - pharmacology | Friedreich Ataxia - physiopathology | Clinical Trials, Phase III as Topic | Echocardiography, Doppler | Electrocardiography | Ubiquinone - therapeutic use | Female | Friedreich Ataxia - complications | Hypertrophy, Left Ventricular - drug therapy | Cardiomyopathy, Hypertrophic - diagnostic imaging | Child | Ventricular Function - drug effects | Ubiquinone - administration & dosage | Friedreich Ataxia - drug therapy | Double-Blind Method | Ubiquinone - analogs & derivatives | Antioxidants - pharmacology | Antioxidants - therapeutic use | Cardiomyopathy, Hypertrophic - physiopathology | Adolescent | Antioxidants - administration & dosage | Cardiomyopathy | Ataxia | Heart diseases | Pediatrics | Colleges & universities | Patients | Age | Index Medicus | Abridged Index Medicus
Journal Article
Journal of neurology, ISSN 0340-5354, 3/2009, Volume 256, Issue S1, pp. 3 - 8
Neurosciences | inherited ataxia | muscle weakness | gene silencing | sensory loss | Neuroradiology | dysarthria | Neurology | Medicine & Public Health | frataxin gene mutation | hypertrophic cardiomyopathy | gait instability | pyramidal tract degeneration | Gene silencing | Muscle weakness | Inherited ataxia | Hypertrophic cardiomyopathy | Frataxin gene mutation | Sensory loss | Dysarthria | Pyramidal tract degeneration | Gait instability | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Friedreich Ataxia - epidemiology | Animals | Humans | Trinucleotide Repeat Expansion - genetics | Iron-Binding Proteins - genetics | Friedreich Ataxia - complications | Mutation | Friedreich Ataxia - genetics | Cellular proteins | Friedreich's ataxia | Gene mutations | Genetic aspects | Research | Diagnosis | Health aspects | Risk factors | Index Medicus
Journal Article
Annals of neurology, ISSN 0364-5134, 10/2014, Volume 76, Issue 4, pp. 489 - 508
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Leukocytes, Mononuclear - metabolism | Area Under Curve | Friedreich Ataxia - pathology | Humans | Middle Aged | Male | Friedreich Ataxia - genetics | Dose-Response Relationship, Drug | Young Adult | Cell Differentiation - genetics | Benzamides - therapeutic use | Pluripotent Stem Cells | Chromatin Immunoprecipitation | Adult | Female | Benzamides - pharmacology | Aminocaproates - therapeutic use | Neurons - drug effects | Membrane Potentials - drug effects | Friedreich Ataxia - drug therapy | Leukocytes, Mononuclear - drug effects | Cross-Sectional Studies | Double-Blind Method | Administration, Oral | Gene Expression Regulation - genetics | Aminocaproates - pharmacology | DNA Methylation - genetics | Membrane Potentials - physiology | Nerve Tissue Proteins - genetics | Gene Expression Regulation - drug effects | Nerve Tissue Proteins - metabolism | Cell Differentiation - drug effects | Adolescent | Trinucleotide Repeat Expansion - genetics | Iron-Binding Proteins - genetics | Histone Deacetylase Inhibitors - therapeutic use | DNA Methylation - drug effects | Cell Line, Transformed | Cohort Studies | Epigenetics | Ataxia | Chromatin | Gene expression | Index Medicus
Journal Article
Journal of the neurological sciences, ISSN 0022-510X, 2011, Volume 303, Issue 1, pp. 1 - 12
Neurology | Friedreich's ataxia | Frataxin | Transcription | Cardiomyopathy | GAA trinucleotide repeats | Iron | Dorsal root ganglion | Dentate nucleus | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Spinal Cord - metabolism | History, 21st Century | Friedreich Ataxia - pathology | Humans | Middle Aged | Child, Preschool | Infant | Male | Friedreich Ataxia - genetics | Young Adult | Spinal Cord - pathology | Adult | Female | Friedreich Ataxia - etiology | Child | Disease Models, Animal | History, 20th Century | Animals | Friedreich Ataxia - history | Adolescent | Age of Onset | History, 19th Century | Iron-Binding Proteins - genetics | Aged | Mice | Index Medicus | Friedreich’s ataxia
Journal Article
Journal of neurochemistry, ISSN 0022-3042, 08/2013, Volume 126, Issue 1, pp. 94 - 102
apoptosis | pancreatic beta cell | Friedreich ataxia | insulin | diabetes | insulin resistance | Biochemistry & Molecular Biology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Diabetes Mellitus - pathology | Insulin - physiology | Friedreich Ataxia - pathology | Humans | Pancreas - pathology | Risk | Mitochondria - metabolism | Iron-Binding Proteins - metabolism | Neurodegenerative Diseases - complications | Insulin-Secreting Cells - metabolism | Animals | Diabetes Mellitus - etiology | Friedreich Ataxia - complications | Insulin-Secreting Cells - pathology | Cell Survival - physiology | Disease Models, Animal | Cytochrome c | Insulin resistance | Ataxia | Pancreatic beta cells | Mitochondrial DNA | Diabetes | Mitochondria | Apoptosis | Index Medicus | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Neurovetenskaper
Journal Article