Overview
Written by experts in the field
Covers all aspects of FXTAS, FXPOI and other premutation disorders in depth
Wide range of coverage from research to clinical to pathological findings
Includes supplementary material: sn.pub/extras
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Table of contents (13 chapters)
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Front Matter
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Back Matter
Keywords
About this book
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.
Editors and Affiliations
About the editors
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 Fragile X-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.
Bibliographic Information
Book Title: FXTAS, FXPOI, and Other Premutation Disorders
Editors: Flora Tassone, Deborah A. Hall
DOI: https://doi.org/10.1007/978-3-319-33898-9
Publisher: Springer Cham
eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)
Copyright Information: Springer International Publishing Switzerland 2016
Hardcover ISBN: 978-3-319-33896-5Published: 23 November 2016
Softcover ISBN: 978-3-319-81627-2Published: 27 June 2018
eBook ISBN: 978-3-319-33898-9Published: 17 November 2016
Edition Number: 2
Number of Pages: IX, 293
Number of Illustrations: 10 b/w illustrations, 12 illustrations in colour
Topics: Human Genetics, Molecular Medicine, Neurosciences