FXTAS, FXPOI, and Other Premutation Disorders

Deborah A. Hall

ISBN 10: 3319816276 / ISBN 13: 9783319816272

Published by Springer International Publishing, Springer International Publishing, 2018

About this Item

Druck auf Anfrage Neuware - Printed after ordering - This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOIand 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 ofFXTAS,FXPOI and other premutation disordersincluding 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.

Seller Inventory # 9783319816272

Bibliographic Details

• Title: FXTAS, FXPOI, and Other Premutation Disorders
• Publisher: Springer International Publishing, Springer International Publishing
• Publication Date: 2018
• Language: English
• ISBN 10: 3319816276
• ISBN 13: 9783319816272
• Binding: Taschenbuch
• Edition: 2nd Edition
• Condition: Neu
• Dimensions: 235W x 155H x 17D millimeters 235 millimeters width by 155 millimeters height by 17 millimeters depth
• Weight: 464 grams

About this title

Synopsis

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.

 

About the Author

Dr. Flora Tassone, Ph.D., is a Professor in the Department of Biochemistry and Molecular Medicine, and a M.I.N.D. Institute Investigator at the University of California, Davis, School of Medicine. Her research focuses on neurodevelopmental disorders including Fragile X syndrome and associated disorders, Autism spectrum disorders and 22q deletion syndrome. Her expertise is in gene transcriptional and translational regulation. Dr. Tassone has extensive experience in medical genetics and clinical analysis. And she has been granted multiple awards and research awards for her outstanding contributions to the field.

Deborah Hall MD PhD is an adult neurologist and movement disorder specialist at Rush University Medical Center in Chicago.  She received her MD from Indiana University and her PhD at University of Colorado.  She is Director of the FXTAS Clinic at Rush, founder of the Chicago Fragile X Research Group, and works closely with Elizabeth Berry-Kravis in the FragileX-associated Disorders Program.  She has expertise in large epidemiology studies, clinical trials, and human subject’s research.  She has been conducting research in FXTAS for over 10 years and has published several phenotype and epidemiological papers related to the disorder.  In addition, she has a busy clinical practice of movement disorder patients and has a secondary research focus on genetics and clinical trials in Parkinson disease.