FXTAS, FXPOI, and Other Premutation Disorders

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Tassone, Flora (Επιμελητής έκδοσης), Hall, Deborah A. (Επιμελητής έκδοσης)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Cham : Springer International Publishing : Imprint: Springer, 2016.
• Έκδοση: 2nd ed. 2016.
• Θέματα: Medicine.; Human genetics.; Molecular biology.; Neurosciences.; Biomedicine.; Human Genetics.; Molecular Medicine.

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...

Πίνακας περιεχομένων:

• 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. .