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Nature reviews. Neurology, ISSN 1759-4758, 07/2011, Volume 7, Issue 7, pp. 379 - 390
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Collagen Type VI - genetics | Muscular Diseases - classification | Muscular Diseases - diagnosis | Extracellular Matrix - genetics | Magnetic Resonance Imaging | Diagnosis, Differential | Connective Tissue - pathology | Humans | Muscular Diseases - pathology | Muscular Diseases - genetics | Muscles - pathology | Skin - pathology | Gene mutations | Collagen | Physiological aspects | Muscle diseases | Genetic aspects | Research | Health aspects | Risk factors | Index Medicus
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 02/2015, Volume 138, Issue 2, pp. 246 - 268
Atrophy | Mitochondria | Excitation-contraction coupling | Pathophysiology | Membrane remodelling | Force generation | Congenital myopathy | Triad | Autophagy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Animals | Myopathies, Structural, Congenital - physiopathology | Humans | Adult | Myopathies, Structural, Congenital - genetics | Mice | Infant, Newborn | Index Medicus | Abridged Index Medicus | autophagy | mitochondria | triad | pathophysiology | atrophy | Review | membrane remodelling | force generation | excitation-contraction coupling | congenital myopathy
Journal Article
The EMBO journal, ISSN 0261-4189, 2018, Volume 37, Issue 23, p. n/a
tubulin polyglutamylation | neurodegeneration | cytosolic carboxypeptidase 1 (CCP1/AGTPBP1/NNA1) | motor neuron | cerebellum | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Humans | Peptides - genetics | Male | Cerebellum - enzymology | Motor Neurons - enzymology | Spinocerebellar Degenerations - genetics | Peripheral Nerves - pathology | Serine-Type D-Ala-D-Ala Carboxypeptidase | Motor Neurons - pathology | Carboxypeptidases - deficiency | Cerebellum - pathology | Purkinje Cells - enzymology | Peripheral Nerves - enzymology | Peptides - metabolism | Spine - enzymology | Spinocerebellar Degenerations - enzymology | Spinocerebellar Degenerations - pathology | Female | Protein Processing, Post-Translational | GTP-Binding Proteins | Spine - pathology | Purkinje Cells - pathology | Cerebellum | Motor neurons | Translation | Enzyme activity | Neurodegenerative diseases | Neurons | Peripheral nerves | Motors | Neuropathy | Drug development | Atrophy | Tubulin | Enzymatic activity | Neurodegeneration | Microtubules | Nerves | Mice | Degeneration | Mutation | Index Medicus | Life Sciences | Genetics | Subcellular Processes | Cellular Biology | Neurons and Cognition | Neurobiology | Neuroscience | AGTPBP1 | NNA1 | cytosolic carboxypeptidase 1 (CCP1 | Molecular Biology of Disease | Medicin och hälsovetenskap
Journal Article
American journal of human genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 62 - 72
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microtubule-Associated Proteins - genetics | Exons | Humans | Child, Preschool | Infant | Male | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Gene Knockdown Techniques | Young Adult | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Female | Child | Fibroblasts - metabolism | Cilia - pathology | Abnormalities, Multiple | Eye Abnormalities - genetics | Sequence Analysis, DNA | Zebrafish - genetics | Cilia - genetics | Phenotype | Animals | Cerebellar Diseases - genetics | Adolescent | Retina - abnormalities | Fibroblasts - cytology | Mutation | Dwarfism | Gene mutations | Cilia and ciliary motion | Joubert syndrome | Physiological aspects | Genetic aspects | Research | Health aspects | Proteins | Genotype & phenotype | Genetics | Genetic disorders | Causality | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 201 - 216
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acids - urine | Frameshift Mutation | Endoplasmic Reticulum - genetics | Humans | Middle Aged | Child, Preschool | Male | Protein Folding | Genetic Variation | Hearing Loss - genetics | Extracellular Matrix - genetics | Homozygote | Ehlers-Danlos Syndrome - genetics | Phenotype | cis-trans-Isomerases - genetics | Adolescent | Ehlers-Danlos Syndrome - urine | Female | Heterozygote | Peptidylprolyl Isomerase - genetics | Child | Hearing Loss - urine | Abnormalities, Multiple - genetics | Fibroblasts - metabolism | Connective tissues | Ehlers-Danlos syndrome | Gene mutations | Protein folding | Physiological aspects | Causes of | Genetic aspects | Research | Medical colleges | Isomerization | Proteins | Genetic research | Mutation | Hearing impairment | Medical disorders | Cells | Index Medicus
Journal Article
The Lancet (British edition), ISSN 0140-6736, 11/2019, Volume 394, Issue 10213, pp. 2025 - 2038
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Muscular Dystrophies - diagnosis | Muscular Dystrophies - therapy | Muscular Dystrophies - genetics | Humans | Muscular Dystrophies - classification | Medical research | Nervous system diseases | Medicine, Experimental | Research institutes | Children | Health aspects | Pediatric neurology | Enzymes | Congenital diseases | Complications | Pathogenesis | Genes | Muscles | Glycoproteins | Muscular dystrophy | Quality of life | Proteins | Developmental stages | Biopsy | Collagen | Duchenne's muscular dystrophy | Extracellular matrix | Diagnostic systems | Mutation | Dystrophy | Gene therapy | Endoplasmic reticulum | Index Medicus | Abridged Index Medicus
Journal Article