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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
2018, ISBN 9780444641892, Volume 155
genetics | early-onset ataxia | next-generation sequencing | SCAR | ataxia with oculomotor apraxia | autosomal-recessive spastic ataxia Charlevoix–Saguenay | Friedreich ataxia | whole-exome sequencing | SYNE1 | Neuroimaging | Heredodegenerative Disorders, Nervous System - genetics | Genes, Recessive - genetics | Humans | Spinocerebellar Ataxias - classification | Spinocerebellar Ataxias - diagnostic imaging | Mutation - genetics | Nerve Tissue Proteins - genetics | Vitamin E Deficiency - genetics | Molecular Diagnostic Techniques | Vitamin E Deficiency - complications | Ataxia - complications | Ataxia - genetics | Heredodegenerative Disorders, Nervous System - diagnostic imaging | Nuclear Proteins - genetics | Spinocerebellar Ataxias - genetics | Index Medicus
Book Chapter
American journal of human genetics, ISSN 0002-9297, 07/2017, Volume 101, Issue 1, pp. 87 - 103
DAB1 reelin adaptor protein | unstable repeat insertion | repeat instability | neurodevelopmental gene | neurodegenerative disease | SCA37 | repeat expansion | RNA-mediated toxicity | neurodegeneration | large Alu pentanucleotide repeat | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Middle Aged | Male | RNA, Messenger - metabolism | RNA - genetics | Young Adult | Haplotypes - genetics | DNA Mutational Analysis | Base Sequence | HEK293 Cells | Adult | Female | Chromosomes, Human, Pair 1 - genetics | Spinocerebellar Ataxias - genetics | Genetic Predisposition to Disease | Introns - genetics | Physical Chromosome Mapping | Cerebellum - metabolism | RNA, Messenger - genetics | Embryonic Development - genetics | DNA, Intergenic - genetics | Nerve Tissue Proteins - genetics | Mutagenesis, Insertional - genetics | Microsatellite Repeats - genetics | Nerve Tissue Proteins - metabolism | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Age of Onset | Alleles | Adaptor Proteins, Signal Transducing - metabolism | Chromosome Segregation - genetics | Index Medicus
Journal Article
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
Journal Article
Genetics in medicine, ISSN 1098-3600, 09/2013, Volume 15, Issue 9, pp. 673 - 683
ataxia | cerebellum | neurogenetics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Testing | Humans | Spinocerebellar Degenerations - diagnosis | Spinocerebellar Degenerations - genetics | Genes, Recessive | Genetic Counseling | Spinocerebellar Degenerations - ethnology | Trinucleotide Repeat Expansion | Phenotype | Genes, Dominant | Age of Onset | Adult | Female | Spinocerebellar Degenerations - epidemiology | Child | Index Medicus
Journal Article
2018, ISBN 9780444641892, Volume 155
triplet repeat expansion | DRPLA | ataxia | spinocerebellar | cerebellar | autosomal-dominant | adult | pediatric | Ataxins - genetics | Spinocerebellar Ataxias - complications | History, 21st Century | History, 20th Century | Humans | Spinocerebellar Ataxias - classification | Genotype | Myoclonic Epilepsies, Progressive - etiology | Mutation - genetics | Spinocerebellar Ataxias - history | Chromosome Aberrations | History, 19th Century | Myoclonic Epilepsies, Progressive - genetics | Myoclonic Epilepsies, Progressive - history | Spinocerebellar Ataxias - genetics | Index Medicus
Book Chapter
Seminars in neurology, ISSN 0271-8235, 07/2014, Volume 34, Issue 3, pp. 280 - 292
episodic ataxias | recessive ataxias | fragile-X tremor ataxia syndrome | spinocerebellar ataxias | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Fragile X Syndrome - genetics | Humans | Tremor - diagnosis | Spinocerebellar Ataxias - congenital | Mutation - genetics | Ataxia - diagnosis | Syndrome | Spinocerebellar Ataxias - diagnosis | Animals | Cerebellar Ataxia - genetics | Tremor - genetics | Muscle Spasticity - diagnosis | Ataxia - genetics | Cerebellar Ataxia - diagnosis | Muscle Spasticity - genetics | Fragile X Syndrome - diagnosis | Physician's Role | Spinocerebellar Ataxias - genetics | Index Medicus
Journal Article
The Cerebellum, ISSN 1473-4222, 2/2014, Volume 13, Issue 1, pp. 17 - 28
SCA7 | Neurology | SCA10 | Neurosciences | Biomedicine | Neurobiology | SCA2 | SCA3/MJD | Modifier genes | Spinocerebellar ataxias | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Seizures - genetics | Ataxin-3 | Humans | Middle Aged | Repressor Proteins - genetics | Spinocerebellar Ataxias - epidemiology | Continental Population Groups - genetics | Nerve Tissue Proteins - genetics | Trinucleotide Repeat Expansion | Young Adult | Phenotype | DNA Mutational Analysis | Seizures - epidemiology | Adolescent | Age of Onset | Adult | Family | Nuclear Proteins - genetics | Child | Brazil - epidemiology | Spinocerebellar Ataxias - genetics | Seizures (Medicine) | Analysis | Genes | Medical genetics | Index Medicus
Journal Article
Journal of neuro-ophthalmology, ISSN 1070-8022, 09/2009, Volume 29, Issue 3, pp. 227 - 237
Clinical Neurology | Ophthalmology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease - genetics | Ocular Motility Disorders - pathology | Humans | Nerve Degeneration - physiopathology | Nerve Degeneration - genetics | Spinocerebellar Ataxias - physiopathology | Cerebellum - physiopathology | Spinocerebellar Ataxias - pathology | Mutation - genetics | Nerve Tissue Proteins - genetics | Nerve Degeneration - pathology | Ocular Motility Disorders - genetics | Cerebellum - pathology | Vision Disorders - physiopathology | Vision Disorders - genetics | Brain Stem - pathology | Brain Stem - physiopathology | Ocular Motility Disorders - physiopathology | Spinocerebellar Ataxias - genetics | Index Medicus
Journal Article