Clinical neurogenetics. (2013)

• Record Type: Book
• Further Information: Note: Editor, Brent L. Fogel ; consulting editor, Randolph W. Evans.
• Editors: Fogel, Brent L
• Contents: Front Cover; Clinical Neurogenetics; Copyright; Contributors; Contents; Forthcoming Issues; Preface; Clinical Neurogenetics; Key points; Introduction; Definitions; Classification; Clinical findings, genetics, and etiology; Primary Genetic Causes/Electroclinical Syndromes; Syndromes with onset in the neonatal period and infancy; Syndromes with onset in childhood and adolescence; Structural/Metabolic Causes; Evaluation and management; Strategies for Diagnosis; Current Management and Therapeutic Options; Summary and future directions; References; Clinical Neurogenetics; Key points; Introduction. Stroke as a phenotype: definition and variabilityEtiologic Stroke Subtypes; Intermediate Cerebrovascular Phenotypes; Genetic disorders associated with stroke; Heritability of Stroke; Known Monogenic Stroke Disorders; Complex genetics of stroke; Overview of Concepts and Methodology; Genetic Architecture of Cerebrovascular Disorders; Ischemic stroke; ICH; WMH; Future research and clinical implications; References; Clinical Neurogenetics; Key points; Definition; Symptoms and clinical course; Nature of the disease; Clinical findings; Physical Examination; Other Diagnostic Modalities. Genetic basis of diseaseC9ORF72; SOD1; TARDBP; FUS; UBQLN2; PFN1; ANG; OPTN; VCP; SETX; VAPB; Other Genes; Genomics/risk variants; Evaluation and management; Strategies for Diagnosis; Current Management and Therapeutic Options; Summary; References; Clinical Neurogenetics; Key points; Introduction; Symptoms and clinical course; Psychiatric comorbidities; Nature of the disease; Clinical findings (case study); Genetics; Disease pathology; Evaluation and management; The role of genetic testing; Summary; References; Clinical Neurogenetics; Key points; Introduction; Definition. Symptoms and Clinical CourseNature of Disease; Clinical findings; Physical Examination; Imaging; Other Diagnostic Modalities; Electromyography; Transcranial magnetic stimulation; Polysomnography; Sensory discrimination testing; Impaired motor learning; Disease pathology; Genetics; Molecular Pathogenesis; Medical management of dystonia; Surgical management of dystonia; Summary; References; Clinical Neurogenetics; Key points; Introduction; Definition; Symptoms and Clinical Course; Clinical findings; Physical Examination; Genetics; Molecular pathogenesis; Polyglutamine Ataxias. Ion-channel Mutations/DysfunctionSignal Transduction; Noncoding Repeats/RNA Toxicity; Genomics; Disease models; Evaluation and Management; Clinical Examination and Diagnostic Testing; Genetic Testing; Current Management and Therapeutic Options; Summary; References; Muscular Dystrophies and Other Genetic Myopathies; Key points; Introduction; Duchenne muscular dystrophy and Becker muscular dystrophy; Facioscapulohumeral muscular dystrophy; Myotonic dystrophy; Limb-girdle muscular dystrophy; Emery-Dreifuss muscular dystrophy; Distal myopathies; Oculopharyngeal muscular dystrophies.
• Publisher Details: Philadelphia : Elsevier
• Publication Date: 2013
• Extent: 1 online resource (xii, pages 892-1153), illustrations
• Subjects: 612.8; Neurogenetics; MEDICAL -- Physiology; SCIENCE -- Life Sciences -- Human Anatomy & Physiology; Neurogenetics; Electronic books
• Languages: English
• ISBNs: 9780323261098; 0323261094; 1336248335; 9781336248335
• Related ISBNs: 9780323261081; 0323261086
• Notes: Note: Includes bibliographical references and index.; Note: Print version record.
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.