Franklin

FXTAS, FXPOI, and Other Premutation Disorders / edited by Flora Tassone, Deborah A. Hall.

Edition:
2nd ed. 2016.
Publication:
Cham : Springer International Publishing : Imprint: Springer, 2016.
Format/Description:
Book
1 online resource
Subjects:
Medicine.
Human genetics.
Molecular biology.
Neurosciences.
System Details:
text file PDF
Summary:
This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI 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. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders 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.
Contents:
1.Clinical Neurological Phenotype of FXTAS
2.The Epidemiology of FXTAS
3.FXTAS: Neuropsychological and Neuropsychiatric Phenotypes
4.Neuroimaging Findings in FXTAS
5.The Pathology of FXTAS
6.The Molecular Biology of FXTAS
7.Genotype/Phenotype Relationships in FXTAS
8.Mouse Models for FXTAS and the Fragile X Premutation
9.Treatment and Management of FXTAS
10.Clinical manifestation and management of FXPOI
11.Model systems for understanding FXPOI
12.Premutation-Associated Disorders in Childhood and Adulthood
13.Genetic Counseling for FXTAS and Fragile X-associated disorders. .
Contributor:
Tassone, Flora. editor.
Hall, Deborah A. editor.
SpringerLink (Online service)
Contained In:
Springer eBooks
Other format:
Printed edition:
ISBN:
9783319338989
Publisher Number:
10.1007/978-3-319-33898-9 doi
Access Restriction:
Restricted for use by site license.
Loading...
Location Notes Your Loan Policy
Description Status Barcode Your Loan Policy