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Journal of neurology, ISSN 0340-5354, 02/2019, Volume 266, Issue 2, pp. 533 - 544
Spinocerebellar ataxia | Molecular diagnosis | Next-generation sequencing | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Spinocerebellar Ataxias - diagnosis | Spinocerebellar Ataxias - metabolism | Spinocerebellar Ataxias - therapy | Humans | Spinocerebellar Ataxias - genetics | Mitochondria | Transcription | Trinucleotide repeats | Antisense oligonucleotides | Ataxia | Antisense RNA | Heredity | Ribonucleic acid--RNA | Autophagy | DNA repair | Phagocytosis | Index Medicus | Neurological Update
Journal Article
Nature reviews. Neuroscience, ISSN 1471-003X, 09/2017, Volume 18, Issue 10, pp. 613 - 626
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Peptides - physiology | Brain - physiopathology | Humans | Peptides - genetics | Spinocerebellar Ataxias - physiopathology | Nerve Tissue Proteins - genetics | Spinocerebellar Ataxias - diagnosis | Animals | Models, Genetic | Models, Neurological | Mutation | Disease Models, Animal | Spinocerebellar Ataxias - genetics | Care and treatment | Spinocerebellar ataxia | Genotype | Development and progression | Genetic aspects | Gene expression | Health aspects | Neurological diseases | Polyglutamine | Ataxin | Neurodegenerative diseases | Therapeutic applications | Trinucleotide repeats | Trinucleotide repeat diseases | Glutamine | Index Medicus
Journal Article
Clinical neurophysiology, ISSN 1388-2457, 2015, Volume 127, Issue 2, pp. 1491 - 1502
Neurology | Cerebellum | Saccade | Multiple system atrophy | Basal ganglia | Pathophysiology | Parkinson’s disease | Parkinson's disease | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Parkinsonian Disorders - physiopathology | Cerebellar Ataxia - epidemiology | Humans | Middle Aged | Parkinsonian Disorders - diagnosis | Parkinsonian Disorders - epidemiology | Spinocerebellar Ataxias - epidemiology | Male | Spinocerebellar Ataxias - physiopathology | Multiple System Atrophy - epidemiology | Cerebellar Ataxia - physiopathology | Spinocerebellar Ataxias - diagnosis | Female | Saccades - physiology | Aged | Multiple System Atrophy - diagnosis | Multiple System Atrophy - physiopathology | Cerebellar Ataxia - diagnosis | Atrophy | Medicine, Experimental | Medical research | Spinocerebellar ataxia | Index Medicus
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 2012, Volume 135, Issue 5, pp. 1423 - 1435
NOP56 | expansion mutation | founder effect | spinocerebellar ataxia | Galicia | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Introns - genetics | Age Factors | Humans | Middle Aged | Family Health | Genotype | Male | Spinocerebellar Ataxias - physiopathology | Spinocerebellar Ataxias - pathology | Disease Progression | Magnetic Resonance Imaging | DNA Mutational Analysis | Spain - epidemiology | Aged, 80 and over | Brain - pathology | Trinucleotide Repeat Expansion - genetics | Female | Aged | Nuclear Proteins - genetics | Chromosomes, Human, Pair 20 - genetics | Genetic Linkage | Spinocerebellar Ataxias - genetics | Index Medicus | Abridged Index Medicus | Cerebellum | Haplotypes | Motor neurons | Tongue | Introns | Emigration | Amyotrophic lateral sclerosis | Hearing loss | Atrophy | Eye | Computed tomography | Magnetic resonance imaging | chromosome 20 | Mutation | Neurotransmission | Denervation | Original
Journal Article
American journal of human genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 544 - 557
Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Haplotypes | Thymidine Kinase - genetics | Introns | Physical Chromosome Mapping | Humans | Spinocerebellar Ataxias - classification | Molecular Sequence Data | Sequence Analysis, DNA | Founder Effect | Homozygote | In Situ Hybridization | Genes, Dominant | Base Sequence | Age of Onset | Chromosomes, Human, Pair 16 | Adult | Mutagenesis, Insertional | Microsatellite Repeats | Spinocerebellar Ataxias - genetics | Index Medicus
Journal Article
Clinical genetics, ISSN 0009-9163, 10/2016, Volume 90, Issue 4, pp. 305 - 314
phenotype | spinocerebellar ataxia | autosomal dominant cerebellar ataxias | genotype | Autosomal dominant cerebellar ataxias | Genotype | Phenotype | Spinocerebellar ataxia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ataxins - genetics | Magnetic Resonance Imaging | Diagnosis, Differential | Genetic Association Studies | Humans | Ataxins - chemistry | Mutation | Spinocerebellar Ataxias - pathology | Sequence Analysis, DNA | Spinocerebellar Ataxias - genetics | Nervous system diseases | Genetic aspects | Genotype & phenotype | Ataxia | Genetic testing | Index Medicus
Journal Article