Flora Tassone,
Deborah A. Hall
Springer International Publishing
2e druk, 2018
9783319816272
FXTAS, FXPOI, and Other Premutation Disorders
Specificaties
Paperback, blz.
|
Engels
Springer International Publishing |
2e druk, 2018
ISBN13: 9783319816272
Rubricering
Levertijd ongeveer 8 werkdagen
Samenvatting
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.
Specificaties
ISBN13:9783319816272
Taal:Engels
Bindwijze:paperback
Uitgever:Springer International Publishing
Druk:2
Inhoudsopgave
<p>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. </p><div><br></div><p></p>