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Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 12/2019, Volume 90, Issue 12, p. e41
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Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 12/2019, Volume 90, Issue 12, p. e5
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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
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Clinical neurophysiology, ISSN 1388-2457, 05/2018, Volume 129, pp. e167 - e168
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Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A36 - A37
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Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A73 - A73
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Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A35 - A35
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Nature genetics, ISSN 1061-4036, 05/2019, Volume 51, Issue 5, pp. 920 - 920
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Brain (London, England : 1878), ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 69 - 77
retinal degeneration | genetics | hypogonadism | ataxia | hereditary spastic paraplegia | spastic ataxia | early onset ataxia | recessive ataxia | spasticity | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Retinopathies | Cerebrospinal fluid. Meninges. Spinal cord | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Biological and medical sciences | Nervous system as a whole | Medical sciences | Ophthalmology | Nervous system (semeiology, syndromes) | Spastic Paraplegia, Hereditary - genetics | Heredodegenerative Disorders, Nervous System - genetics | Humans | Middle Aged | Ataxia - etiology | Male | Phospholipases - genetics | Cerebellar Ataxia - physiopathology | Mutation - physiology | Adult | Female | Hypogonadism - physiopathology | Ataxia - genetics | Spinocerebellar Ataxias - genetics | Gonadotropin-Releasing Hormone - genetics | Models, Molecular | Spinocerebellar Ataxias - physiopathology | Heredodegenerative Disorders, Nervous System - physiopathology | Mutation - genetics | Retinal Dystrophies - physiopathology | DNA - genetics | Hypogonadism - genetics | Exome - genetics | Cerebellar Ataxia - genetics | Family | Gonadotropin-Releasing Hormone - deficiency | Retinal Dystrophies - genetics | Index Medicus | Abridged Index Medicus | Original
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Brain (London, England : 1878), ISSN 0006-8950, 03/2003, Volume 126, Issue 3, pp. 685 - 691
Gluten sensitivity | Gluten ataxia | Prevalence | Coeliac disease | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Gastroenterology. Liver. Pancreas. Abdomen | Neurology | Liver. Biliary tract. Portal circulation. Exocrine pancreas | Biological and medical sciences | Nervous system as a whole | Medical sciences | Other diseases. Semiology | Nervous system (semeiology, syndromes) | Friedreich Ataxia - pathology | Humans | Middle Aged | Gait Ataxia - immunology | Male | Case-Control Studies | Cerebellar Ataxia - immunology | HLA-DQ Antigens - analysis | Celiac Disease - immunology | Gait Ataxia - complications | Antibodies - analysis | Aged, 80 and over | Celiac Disease - complications | Adult | Female | Friedreich Ataxia - complications | Ataxia - pathology | Ataxia - immunology | Genetic Predisposition to Disease | Gliadin - immunology | Cerebellar Ataxia - pathology | Cerebellum - pathology | Celiac Disease - pathology | Magnetic Resonance Imaging | Cerebellar Ataxia - complications | Friedreich Ataxia - immunology | Gait Ataxia - pathology | Adolescent | Aged | Ataxia - complications | Index Medicus | Abridged Index Medicus
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Clinical genetics, ISSN 0009-9163, 2016, Volume 90, Issue 2, pp. 105 - 117
ataxia‐telangiectasia | heterozygote | risk factor | ATM protein | ataxia-telangiectasia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Myocardial Ischemia - genetics | Gastrointestinal Neoplasms - genetics | Humans | Middle Aged | Breast Neoplasms - etiology | Genetic Counseling | Gastrointestinal Neoplasms - pathology | Life Expectancy | Adult | Female | Ataxia Telangiectasia - complications | Myocardial Ischemia - diagnosis | Ataxia Telangiectasia - diagnosis | Gene Expression | Genetic Predisposition to Disease | Risk Factors | Gastrointestinal Neoplasms - diagnosis | Evidence-Based Medicine | Gastrointestinal Neoplasms - etiology | Myocardial Ischemia - pathology | Breast Neoplasms - genetics | Myocardial Ischemia - etiology | Breast Neoplasms - pathology | Ataxia Telangiectasia - pathology | Ataxia Telangiectasia - genetics | Heterozygote | Breast Neoplasms - diagnosis | Mutation | Ataxia Telangiectasia Mutated Proteins - genetics | Practice Guidelines as Topic | Nervous system diseases | Oncology, Experimental | Mortality | Practice guidelines (Medicine) | Ataxia | Ataxia telangiectasia | Research | Heart diseases | Health aspects | Risk factors | Cancer | Hormone replacement therapy | Breast cancer | Health risk assessment | Index Medicus
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Annals of clinical and translational neurology, 01/2019, Volume 6, Issue 1, pp. 154 - 160
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Archives of disease in childhood. Fetal and neonatal edition, ISSN 1359-2998, 12/2013, Volume 98, Issue 12, p. S217
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Human mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1690 - 1699
checkpoint | MRN | ataxia‐telangiectasia‐like disorder (ATLD) | ataxia | ataxia‐telangiectasia mutated (ATM) | meiotic recombination 11 (MRE11) | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ataxia Telangiectasia - diagnosis | Haplotypes | Genetic Predisposition to Disease | Disease Susceptibility | Ataxia Telangiectasia Mutated Proteins - metabolism | Genetic Association Studies | Signal Transduction | Humans | Transcriptome | Infant | Gene Expression Profiling | S Phase Cell Cycle Checkpoints - genetics | Magnetic Resonance Imaging | Phenotype | RNA Splicing | Ataxia Telangiectasia - etiology | Cell Line, Tumor | Female | Mutation | Ataxia Telangiectasia Mutated Proteins - genetics | MRE11 Homologue Protein - metabolism | Child | MRE11 Homologue Protein - genetics | Cerebellum | Camptothecin | Phosphorylation | Cerebellar ataxia | DNA damage | Lymphoblastoid cell lines | Karyotypes | Meiosis | Defects | Genomic instability | Pathogenicity | MRE11 protein | Ataxia telangiectasia | Ataxia | Index Medicus
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Indian journal of medical research (New Delhi, India : 1994), ISSN 0971-5916, 02/2014, Volume 139, Issue 2, pp. 321 - 322
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Clinical genetics, ISSN 0009-9163, 08/2016, Volume 90, Issue 2, pp. 156 - 160
neurodegenerative diseases | cerebellar ataxia | ADCK3 | mitochondrial disorders | CoQ10 | Mitochondrial disorders | Neurodegenerative diseases | Cerebellar ataxia | Electron Transport Chain Complex Proteins - deficiency | Lactic Acid - blood | Muscle Weakness - diagnosis | Skin - metabolism | Humans | Middle Aged | Ubiquinone - deficiency | Muscle Weakness - complications | Male | Muscle, Skeletal - metabolism | Mitochondrial Proteins - genetics | Muscle Weakness - genetics | Cerebellar Ataxia - physiopathology | Mitochondrial Diseases - complications | Ataxia - genetics | Mitochondrial Proteins - deficiency | Fibroblasts - metabolism | Mitochondrial Diseases - genetics | Ataxia - physiopathology | Gene Expression | Ubiquinone - analogs & derivatives | Electron Transport Chain Complex Proteins - genetics | Mitochondria - metabolism | Ubiquinone - genetics | Codon, Nonsense | Delayed Diagnosis | Mitochondria - pathology | Ataxia - diagnosis | Homozygote | Magnetic Resonance Imaging | Cerebellar Ataxia - complications | Cerebellar Ataxia - genetics | Muscle, Skeletal - physiopathology | Ataxia - complications | Muscle Weakness - physiopathology | Mitochondrial Diseases - physiopathology | Cerebellar Ataxia - diagnosis | Mitochondrial Diseases - diagnosis | Genetic research | Muscles | Lactates | Genetic aspects | Codon | Ataxia | Mutation | Index Medicus
Journal Article
The Journal of cell biology, ISSN 0021-9525, 03/2019, Volume 218, Issue 3, pp. 909 - 928
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Purkinje Cells - metabolism | Ataxia Telangiectasia Mutated Proteins - metabolism | Humans | Cells, Cultured | Adenosine Triphosphate - genetics | Ataxia Telangiectasia - metabolism | Mitochondria - metabolism | Nuclear Respiratory Factor 1 - genetics | Animals | Mitochondria - genetics | Adenosine Triphosphate - metabolism | Ataxia Telangiectasia - pathology | Nuclear Respiratory Factor 1 - metabolism | Ataxia Telangiectasia - genetics | Mice | Ataxia Telangiectasia Mutated Proteins - genetics | Purkinje Cells - pathology | Cerebellum | Oxidative stress | Reactive oxygen species | Gene regulation | DNA damage | Mitochondrial DNA | Electron transport chain | Mitochondria | Purkinje cells | Ataxia | Dimerization | Deoxyribonucleic acid--DNA | Translocation | Signs and symptoms | Cell survival | Gene expression | Nuclear transport | Nuclear fuels | Depletion | Ataxia telangiectasia | Ataxia telangiectasia mutated protein | Energy demand | Mutation | Electron transport | ATP | Alternative fuels | Index Medicus | 1 | s | 29 | 43
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