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The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

Editat de Flora Tassone, Elizabeth M. Berry-Kravis
en Limba Engleză Paperback – 20 noi 2014
In 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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Specificații

ISBN-13: 9781489982230
ISBN-10: 148998223X
Pagini: 204
Ilustrații: XVI, 188 p.
Dimensiuni: 155 x 235 x 11 mm
Greutate: 0.3 kg
Ediția:2010
Editura: Springer
Colecția Springer
Locul publicării:New York, NY, United States

Public țintă

Research

Cuprins

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.

Textul de pe ultima copertă

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.

Caracteristici

This book should serve as a resource for professionals in all fields regarding diagnosis, management and counseling of patients with FXTAS and their families This book presents the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments Information is presented on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings Includes supplementary material: sn.pub/extras