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Journal of the peripheral nervous system, ISSN 1085-9489, 06/2020, Volume 25, Issue 2, pp. 102 - 106
CMT1 | neuropathy | lipids | PMP2 | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Proteins | Myelination | Molecular modelling | Next-generation sequencing | Demyelination | Lipids | Neuropathy | Mutation | Protein structure | Isoleucine | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 11/2016, Volume 37, Issue 11, pp. 1202 - 1208
sALS | HSPB1 | chaperone activity | molecular modelling | Molecular modelling | SALS | Chaperone activity | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | HSP27 Heat-Shock Proteins - chemistry | Genetic Predisposition to Disease | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Protein Multimerization | HSP27 Heat-Shock Proteins - genetics | Amyotrophic Lateral Sclerosis - metabolism | HSP27 Heat-Shock Proteins - metabolism | Female | Italy | Aged | Mutation | Physiological aspects | Development and progression | Amyotrophic lateral sclerosis | Nervous system diseases | Neurons | Proteins | Pathogenesis | Index Medicus
Journal Article
Annals of human genetics, ISSN 0003-4800, 09/2020, Volume 84, Issue 5, pp. 417 - 422
sensorineural hearing loss | neuropathy | Twinkle | ovarian dysgenesis | Perrault syndrome | TWNK | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondria | Phenotypes | Ataxia | Ovaries | Mutation | Hearing impairment | Peripheral neuropathy | Genotypes | Hearing loss | Index Medicus
Journal Article
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 05/2014, Volume 85, Issue 5, pp. 478 - 485
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Frontotemporal Dementia - genetics | Phenotype | Genetic Testing | Amyotrophic Lateral Sclerosis - therapy | Amyotrophic Lateral Sclerosis - genetics | Humans | Amyotrophic Lateral Sclerosis - diagnosis | Genotype | Frontotemporal Dementia - diagnosis | Mutation - genetics | Genetic Counseling | Frontotemporal Dementia - therapy | Care and treatment | Genetic discrimination | Amyotrophic lateral sclerosis | Genetic aspects | Diagnosis | Frontotemporal dementia | Risk factors | Index Medicus
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 09/2009, Volume 17, Issue 9, pp. 1129 - 1134
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | 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 | Frameshift Mutation | Myelin P0 Protein | Demyelinating Diseases - genetics | Humans | Mutation, Missense | Charcot-Marie-Tooth Disease - pathology | Charcot-Marie-Tooth Disease - genetics | Charcot-Marie-Tooth Disease - classification | DNA Mutational Analysis | Axons - pathology | Peripheral Nervous System Diseases - pathology | Mutation | Demyelinating Diseases - pathology | Peripheral Nervous System Diseases - genetics | Phenotypes | Neurosciences | Immunoglobulins | Congenital diseases | Myelin | Pathogenesis | Genes | Teeth | Amino acids | Peripheral neuropathy | Amino acid substitution | Proteins | Molecular modelling | Gene frequency | Demyelination | Transgenic animals | Charcot-Marie-Tooth disease | Myelin P0 protein | Protein structure | Index Medicus | CMT1 | MPZ | molecular modelling | CMT2
Journal Article
Lancet neurology, ISSN 1474-4422, 2017, Volume 16, Issue 9, pp. 701 - 711
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | Humans | Huntington Disease - genetics | Adult | MutS Homolog 3 Protein | Registries | DNA-Binding Proteins - genetics | Genome-Wide Association Study - methods | Longitudinal Studies | Principal Component Analysis | Disease Progression | Huntington Disease - physiopathology | Genetic research | Genetic markers | Genetic aspects | Analysis | Genomics | Huntingtons disease | Neuroimaging | Animal models | Ontology | Huntingtin | Cognitive ability | Genomes | Single-nucleotide polymorphism | Motor task performance | DNA repair | Proteins | Consortia | Genetic analysis | Lead | Dihydrofolate reductase | Trinucleotide repeat diseases | Age | Deoxyribonucleic acid--DNA | Medical imaging | Polyglutamine | Trinucleotide repeats | Chromosome 5 | Huntington's disease | Meta-analysis | Studies | Point mutation | Index Medicus | Life Sciences | Human health and pathology
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 10/2018, Volume 13, Issue 1, pp. 177 - 177
Polyneuropathy | TTR | CMT2 | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Genetic Predisposition to Disease | Amyloid Neuropathies, Familial - genetics | Humans | Middle Aged | Female | Male | Mutation | Amyloid Neuropathies, Familial - diagnosis | Diagnosis | Gene mutations | Health aspects | Charcot-Marie-Tooth disease | Genotype & phenotype | Maternal & child health | Transthyretin | Amyotrophic lateral sclerosis | Amyloid | Amyloidosis | Neuropathy | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2011, Volume 155, Issue 11, pp. 2750 - 2753
HLXB9 gene | neuroendocrine tumor | Currarino syndrome | pelvic mass | Pelvic mass | Neuroendocrine tumor | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Biological and medical sciences | Medical genetics | Medical sciences | Uterus - pathology | Carcinoma, Neuroendocrine - diagnosis | Genetic Testing | Rectum - pathology | Humans | Sacrum - abnormalities | Mutation, Missense | Syringomyelia - pathology | Fatal Outcome | Adult | Female | Pelvis - pathology | Anal Canal - pathology | Syringomyelia - diagnosis | Sacrum - pathology | European Continental Ancestry Group - genetics | Genetic Association Studies | Digestive System Abnormalities - genetics | Uterus - abnormalities | Carcinoma, Neuroendocrine - genetics | Constipation - pathology | Transcription Factors - genetics | Homeodomain Proteins - genetics | Rectum - abnormalities | Anal Canal - abnormalities | Dermoid Cyst - pathology | Digestive System Abnormalities - diagnosis | Magnetic Resonance Imaging | Carcinoma, Neuroendocrine - pathology | Syringomyelia - genetics | Heterozygote | Digestive System Abnormalities - pathology | Transformation | Congenital defects | Anorectal | Ovaries | Pelvis | Hereditary diseases | Embryogenesis | Sacrum | Cysts | Uterus | Genetic analysis | Meninges | Mutation | Constipation | Neuroendocrine tumors | Index Medicus
Journal Article
Autoimmunity reviews, ISSN 1568-9972, 2016, Volume 15, Issue 5, pp. 427 - 432
Allergy and Immunology | Epigenetics | Genetic factors | Polymorphisms | Systemic sclerosis | Life Sciences & Biomedicine | Immunology | Science & Technology | B-Lymphocytes - immunology | Epigenesis, Genetic | Humans | Interleukin-12 - immunology | Scleroderma, Systemic - genetics | Tumor Necrosis Factor-alpha - immunology | T-Lymphocytes - immunology | Scleroderma, Systemic - immunology | Development and progression | Genetic aspects | Systemic scleroderma | Scleroderma (Disease)
Journal Article