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Hall, Deborah A.

FXTAS, FXPOI, and Other Premutation Disorders

Hall, Deborah A. - FXTAS, FXPOI, and Other Premutation Disorders, ebook

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ISBN: 9783319338989
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Table of contents

1. Clinical Neurological Phenotype of FXTAS
Maureen A. Leehey, Deborah A. Hall, Ying Liu, Randi J. Hagerman

2. The Epidemiology of FXTAS
Deborah A. Hall, Marsha Mailick

3. FXTAS: Neuropsychological and Neuropsychiatric Phenotypes
Jim Grigsby, Andreea L. Seritan, James A. Bourgeois, Anson Kairys

4. Neuroimaging Findings in FXTAS
Emily S. Halket, Jun Yi Wang, David Hessl, Susan M. Rivera

5. The Pathology of FXTAS
Veronica Martinez Cerdeno, Claudia Greco

6. The Molecular Biology of Premutation Expanded Alleles
Flora Tassone, Chantal Sellier, Nicolas Charlet-Berguerand, Peter K. Todd

7. Genotype/Phenotype Relationships in FXTAS
Emily G. Allen, Maureen A. Leehey, Flora Tassone, Stephanie Sherman

8. Mouse Models for FXTAS and the Fragile X Premutation
Molly M. Foote, Milo Careaga, Ronald A. M. Buijsen, Robert F. Berman, Rob Willemsen, Renate K. Hukema

9. Treatment and Management of FXTAS
Deborah A. Hall, Maureen A. Leehey, Elizabeth Berry-Kravis, Randi J. Hagerman

10. Clinical Manifestation and Management of FXPOI
Stephanie L. Sherman, Emily G. Allen, Jessica B. Spencer, Lawrence M. Nelson

11. Model Systems for Understanding FXPOI
Karen Usdin, Renate K. Hukema, Stephanie L. Sherman

12. Premutation-Associated Disorders in Childhood and Adulthood
Randi J. Hagerman, Anne Wheeler, Sarah Fitzpatrick, Jessica Hunter

13. Genetic Counseling for FXTAS and Fragile X-Associated Disorders
Louise W. Gane, Liane Abrams

Keywords: Biomedicine, Human Genetics, Molecular Medicine, Neurosciences

Editor
 
Publisher
Springer
Publication year
2016
Language
en
Edition
2nd ed. 2016
Category
Medicine, Health Care, Mode
Format
Ebook
eISBN (PDF)
9783319338989
Printed ISBN
978-3-319-33896-5

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