FXTAS, FXPOI, and Other Premutation Disorders

FXTAS, FXPOI, and Other Premutation Disorders

Hall, Deborah A.; Tassone, Flora

Springer International Publishing AG

06/2018

293

Mole

Inglês

9783319816272

15 a 20 dias

4628

Descrição não disponível.
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.
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Fragile X-Associated Tremor Ataxia Syndrome;primary ovarian insufficiency;Phenotypes;Molecular Biology;Genetic;premutation carriers