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Neurology, ISSN 0028-3878, 01/2015, Volume 84, Issue 1, pp. 28 - 35
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Myopathies, Nemaline - genetics | Humans | Middle Aged | Child, Preschool | Respiratory Insufficiency - etiology | Infant | Male | Myopathies, Structural, Congenital - genetics | Myopathies, Structural, Congenital - complications | Myopathies, Nemaline - pathology | Young Adult | Mobility Limitation | Adult | Deglutition Disorders - etiology | Female | Retrospective Studies | Child | Myopathy, Central Core - genetics | Infant, Newborn | Cross-Sectional Studies | Scoliosis - etiology | Muscle Proteins - genetics | Myopathies, Nemaline - complications | Myopathy, Central Core - pathology | Adolescent | Myopathies, Structural, Congenital - pathology | Myopathy, Central Core - complications | Consanguinity | Muscle, Skeletal - pathology | Cohort Studies | Index Medicus | Abridged Index Medicus | 176 | 185 | 227
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Congenital myopathies: Disorders of excitation-contraction coupling and muscle contraction
Nature reviews. Neurology, ISSN 1759-4758, 03/2018, Volume 14, Issue 3, pp. 151 - 167
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Excitation Contraction Coupling - physiology | Myopathies, Structural, Congenital - physiopathology | Humans | Muscle Contraction - physiology | Myopathies, Structural, Congenital - therapy | Myopathies, Structural, Congenital - pathology | Myopathies, Structural, Congenital - genetics | Care and treatment | Muscle diseases | Genetic aspects | Research | Gene mutations | Congenital diseases | Mutation | Index Medicus
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American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 365 - 371
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Morpholinos - genetics | Humans | Computational Biology | Microtubule-Associated Proteins | Molecular Sequence Data | Myopathies, Structural, Congenital - genetics | Zebrafish | Mutation - genetics | Open Reading Frames - genetics | Reverse Transcriptase Polymerase Chain Reaction | Sequence Analysis, DNA | Blotting, Western | Muscle Proteins - genetics | Animals | Pedigree | Base Sequence | RNA Splicing - genetics | Myopathies, Structural, Congenital - pathology | Models, Genetic | Genes, Dominant - genetics | Chromosomes, Human, Pair 16 - genetics | Genetic Linkage | Gene mutations | Causes of | Muscle diseases | Genetic aspects | Research | Genetic transcription | RNA processing | Proteins | Genetic disorders | Mutation | Gene expression | Biopsy | Index Medicus | Ultrastructure | Insertion | Children | Nuclei | Skeletal muscle | Linkage analysis | Myopathy | Report
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Orphanet journal of rare diseases, ISSN 1750-1172, 2008, Volume 3, Issue 1, pp. 26 - 26
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Myopathies, Structural, Congenital - epidemiology | Genetic Diseases, X-Linked - epidemiology | Chromosomes, Human, X - genetics | Genes, Recessive - genetics | Humans | Middle Aged | Infant | Male | Myopathies, Structural, Congenital - genetics | Genetic Diseases, X-Linked - diagnosis | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Myopathies, Structural, Congenital - pathology | Genetic Diseases, X-Linked - pathology | Genetic Diseases, X-Linked - genetics | Myopathies, Structural, Congenital - diagnosis | Muscle, Skeletal - pathology | Neuromuscular diseases | Care and treatment | Prognosis | Gene mutations | Physiological aspects | Development and progression | Genetic aspects | Research | Index Medicus | Quantitative Methods | Protein Tyrosine Phosphatases, Non-Receptor | Genes, Recessive | Chromosomes, Human, X | Life Sciences | Myopathies, Structural, Congenital | Computer Science | Muscle, Skeletal | Genetic Diseases, X-Linked | Bioinformatics
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2018, ISBN 9780444640765, Volume 148
Book Chapter
Neuromuscular disorders : NMD, ISSN 0960-8966, 2010, Volume 20, Issue 12, pp. 796 - 800
Neurology | Congenital myopathy | Tropomyosin 3 (TPM 3) | Congenital fibre type disproportion (CFTD) | Congenital myasthenia | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Myasthenic Syndromes, Congenital - genetics | Tropomyosin - genetics | Diagnosis, Differential | Humans | Male | Myopathies, Structural, Congenital - genetics | Young Adult | Myasthenic Syndromes, Congenital - pathology | Myopathies, Structural, Congenital - pathology | Female | Muscle, Skeletal - pathology | Mutation | Child | Genetic research | Genetic aspects | Genetic disorders | Muscle proteins | Index Medicus | Exons | Tropomyosin | Electrophysiology | Muscles | Ryanodine receptors | Feeding | Mimicry | neuromuscular system | Missense mutation | Magnetic resonance imaging | Biopsy | Scoliosis | Neuromuscular junctions | Ventilation | Myasthenia | EMG | Myopathy
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Brain (London, England : 1878), ISSN 0006-8950, 2016, Volume 139, Issue 3, pp. 674 - 691
Foetal akinesia | Loss-of-function mutation | Congenital myopathy | Foetal hypokinesia | SCN4A | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | NAV1.4 Voltage-Gated Sodium Channel - genetics | Humans | Xenopus laevis | Child, Preschool | Male | Myopathies, Structural, Congenital - genetics | Mutation - genetics | Animals | Pedigree | Hypokinesia - diagnosis | Adolescent | HEK293 Cells | Hypokinesia - genetics | Adult | Female | Myopathies, Structural, Congenital - diagnosis | Child | Infant, Newborn | Index Medicus | Abridged Index Medicus | loss-of-function mutation | foetal hypokinesia | Original | foetal akinesia | congenital myopathy
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Developmental medicine and child neurology, ISSN 0012-1622, 03/2020, Volume 62, Issue 3, pp. 297 - 302
Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Muscle, Skeletal - diagnostic imaging | Myopathies, Structural, Congenital - pathology | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - genetics | High-Throughput Nucleotide Sequencing | Muscle, Skeletal - pathology | Mutation | Myopathies, Structural, Congenital - diagnostic imaging | Index Medicus
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