The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) [recurso electrónico] / edited by Flora Tassone, Elizabeth M. Berry-Kravis.
Tipo de material: TextoEditor: New York, NY : Springer New York : Imprint: Springer, 2010Descripción: XVI, 188 p. online resourceTipo de contenido: text Tipo de medio: computer Tipo de portador: online resourceISBN: 9781441958051Tema(s): Medicine | Human genetics | Neurosciences | Biomedicine | Human Genetics | Molecular Medicine | NeurosciencesFormatos físicos adicionales: Printed edition:: Sin títuloClasificación CDD: 611.01816 | 599.935 Clasificación LoC:RB155-155.8QH431Recursos en línea: Libro electrónicoTipo de ítem | Biblioteca actual | Colección | Signatura | Copia número | Estado | Fecha de vencimiento | Código de barras |
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Libro Electrónico | Biblioteca Electrónica | Colección de Libros Electrónicos | RB155 -155.8 (Browse shelf(Abre debajo)) | 1 | No para préstamo | 371509-2001 |
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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