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The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) [electronic resource] /edited by Flora Tassone, Elizabeth M. Berry-Kravis.

by Tassone, Flora [editor.]; Berry-Kravis, Elizabeth M [editor.]; SpringerLink (Online service).
Material type: materialTypeLabelBookPublisher: New York, NY : Springer New York : 2010.Description: XVI, 188p. online resource.ISBN: 9781441958051.Subject(s): Medicine | Human genetics | Neurosciences | Biomedicine | Human Genetics | Molecular Medicine | NeurosciencesDDC classification: 611.01816 | 599.935 Online resources: Click here to access online
Contents:
Clinical Neurological Phenotype of FXTAS -- The Epidemiology of FXTAS -- FXTAS: Neuropsychological/Neuropsychiatric Phenotypes -- Radiological Findings in FXTAS -- The Pathology of FXTAS -- The Molecular Biology of FXTAS -- Genotype/Phenotype Relationships in FXTAS -- Animal Models for FXTAS -- Treatment and Management of FXTAS -- Genetic Counseling for FXTAS and FMR1-Associated Disorders.
In: Springer eBooksSummary: In The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.
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Item type Current location Call number Status Date due Barcode
QH431 (Browse shelf) Available
Long Loan MAIN LIBRARY
RB155-155.8 (Browse shelf) Available

Clinical Neurological Phenotype of FXTAS -- The Epidemiology of FXTAS -- FXTAS: Neuropsychological/Neuropsychiatric Phenotypes -- Radiological Findings in FXTAS -- The Pathology of FXTAS -- The Molecular Biology of FXTAS -- Genotype/Phenotype Relationships in FXTAS -- Animal Models for FXTAS -- Treatment and Management of FXTAS -- Genetic Counseling for FXTAS and FMR1-Associated Disorders.

In The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.

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