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Kidney international, ISSN 0085-2538, 10/2018, Volume 94, Issue 4, pp. 826 - 827
Journal Article
01/2019, ISBN 9783039216116
polymicrogyria | n/a | neurodegenerative disease | next generation sequencing (NGS) | inborn error of metabolism | genetic biomarker | deep learning | TUBA1A | Alzheimer’s disease (AD) | ataxia | risk prediction | movement science | tubulin | R2H | diagnosis | machine learning | metal storage disorders | amyotrophic lateral sclerosis (ALS) | glucocerebrosidase | Parkinsonism | cerebellar hypoplasia | Gaucher disease | disease phenotyping | tubulinopathy | Arg2His | Parkinson’s disease (PD) | dementia | Parkinson’s disease
eBook
3.
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Is elevated beta‐hexosaminidase activity a potential biomarker for Parkinson's disease?
Movement disorders, ISSN 0885-3185, 09/2014, Volume 29, Issue 10, pp. 1328 - 1329
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 04/2015, Volume 138, Issue 4, pp. e339 - U37
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | alpha-Synuclein - biosynthesis | Humans | Up-Regulation - physiology | Female | Male | Parkinson Disease - metabolism | Glucosylceramidase - antagonists & inhibitors | Index Medicus | Abridged Index Medicus
Journal Article
Brain sciences, ISSN 2076-3425, 03/2019, Volume 9, Issue 3, p. 72
Journal Article
Current drug targets, ISSN 1389-4501, 2012, Volume 13, Issue 9, pp. 1204 - 1206
Journal Article
Movement disorders clinical practice (Hoboken, N.J.), ISSN 2330-1619, 04/2019, Volume 6, Issue 4, pp. 339 - 339
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2020, Volume 182, Issue 5, pp. 1284 - 1287
Journal Article
Gait & posture, ISSN 0966-6362, 02/2018, Volume 60, pp. 154 - 163
Systematic review | Cerebellar ataxia | Gait analysis | Meta-analysis | Neurosciences | Sport Sciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Orthopedics | Science & Technology | Walking Speed | Gait - physiology | Gait Disorders, Neurologic - physiopathology | Humans | Gait Ataxia - physiopathology | Walking - physiology | Walking | Development and progression | Analysis | Index Medicus
Journal Article
Movement disorders, ISSN 0885-3185, 10/2010, Volume 25, Issue 13, pp. 2253 - 2253
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Brain - metabolism | Proton-Translocating ATPases - genetics | Humans | Nerve Degeneration - genetics | Mutation - genetics | Nerve Degeneration - etiology | Iron - metabolism | Nerve Degeneration - pathology | Index Medicus
Journal Article
Neuroreport, ISSN 0959-4965, 08/2017, Volume 28, Issue 11, pp. 677 - 681
22q11 deletion syndrome | movement disorder | Parkinson's disease | hyposmia | REM sleep behavior disorder | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Parkinson Disease - complications | Eye Movements - physiology | Humans | Middle Aged | Risk Factors | Male | Parkinson Disease - genetics | Prodromal Symptoms | 22q11 Deletion Syndrome - genetics | REM Sleep Behavior Disorder - genetics | Neuropsychological Tests | Young Adult | REM Sleep Behavior Disorder - physiopathology | Adolescent | Adult | Female | Longitudinal Studies | REM Sleep Behavior Disorder - diagnosis | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 10/2018, Volume 176, Issue 10, pp. 2215 - 2225
22q11 deletion syndrome | psychosocial | quality of life | systematic review | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Family - psychology | Caregivers - psychology | Humans | Female | Male | DiGeorge Syndrome - psychology | DiGeorge Syndrome - genetics | Emotions | Literature reviews | Systematic review | Diagnosis | Morbidity | Index Medicus | Original
Journal Article
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 08/2012, Volume 83, Issue 8, pp. 853 - 854
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Glucosylceramidase - genetics | Humans | Middle Aged | Kaplan-Meier Estimate | Male | Parkinson Disease - genetics | Mutation - genetics | Case-Control Studies | Aged, 80 and over | Family | Female | Heterozygote | Aged | Studies | Pathology | Parents & parenting | Sleep | Cognitive ability | Parkinsons disease | Mutation | Family medical history | Patients | Age | Index Medicus | non-motor | Parkinson's disease | genetics | neurogenetics | medicine | movement disorders | olfactory dysfunction | 1506 | glucocerebrosidase | PostScript | Lewy body
Journal Article
JAMA neurology, ISSN 2168-6149, 12/2014, Volume 72, Issue 2, pp. 201 - 208
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | Glucosylceramidase - genetics | Humans | Middle Aged | Male | Parkinson Disease - genetics | Prodromal Symptoms | Mutation - genetics | Parkinson Disease - physiopathology | Disease Progression | Gaucher Disease - genetics | Biomarkers | Female | Gaucher Disease - physiopathology | Heterozygote | Aged | Longitudinal Studies | Index Medicus | Abridged Index Medicus
Journal Article
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A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy
American journal of medical genetics. Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 1128 - 1130
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Haploinsufficiency - genetics | Cytoskeletal Proteins - genetics | Humans | Child, Preschool | Male | Epilepsy - physiopathology | Intellectual Disability - genetics | Intellectual Disability - physiopathology | Comparative Genomic Hybridization | Hepatocyte Growth Factor - genetics | Epilepsy - genetics | Polymorphism, Single Nucleotide | Mutation | Neuropeptides - genetics | Chromosomes, Human, Pair 7 - genetics | Calcium Channels - genetics | Epilepsy | Index Medicus
Journal Article
European neurology, ISSN 0014-3022, 09/2008, Volume 60, Issue 4, pp. 200 - 205
Review | Ceruloplasmin | Retinal degeneration | Ataxia | Autosomal recessive | Aceruloplasminemia | Dementia | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Metal Metabolism, Inborn Errors - genetics | Humans | Middle Aged | Male | Nervous System Diseases - genetics | Ceruloplasmin - genetics | Iron Metabolism Disorders - physiopathology | Iron Metabolism Disorders - genetics | Adolescent | Age of Onset | Adult | Female | Aged | Nervous System Diseases - physiopathology | Mutation | Metal Metabolism, Inborn Errors - physiopathology | Index Medicus
Journal Article
Movement disorders, ISSN 0885-3185, 09/2019, Volume 34, Issue 9, pp. 1365 - 1373
Parkinson's | Gaucher | cognition | olfaction | depression | prodromal | glucocerebrosidase | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Confidence intervals | Basal ganglia | Parkinson's disease | Cognitive ability | Olfaction | Central nervous system diseases | Glucosylceramidase | Diagnosis | Mutation | Movement disorders | Index Medicus | Neurosciences | Neurovetenskaper
Journal Article