In Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, 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. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS 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.
Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, Xie C, Bleesing J, Filipovich L, Risma K, Assa'ad AH, Roehrs PA, Bernstein JA (2016) Defects of B‐cell terminal differentiation in patients with type‐1 Kabuki ...
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 ...
This volume discusses the latest technologies used to study all aspects of Fragile-X Syndrome (FXS).
Reflex Epilepsies: Progress in Understanding, Montrouge, France: J. Libbey Eurotext; 2004, 79–91. Marrosu F, Barberini L, Puligheddu M, et al. (2009) Combined EEG/fMRI recording in musicogenic epilepsy. Epilepsy Res 84:77–81.
This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome....
Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics.
Beginning with an examination of the cerebellar region, and then progressing to a fresh perspective on the clinical aspects of the various forms of ataxia, this handbook gives clinicians a state-of-the-art reference for the management of ...
Focusing on ontogeny, this text covers basic processes involved in both healthy and atypical maturation, and also addresses the range of neuroimaging techniques most widely used for studying children.
This handbook reviews promising applications of psychedelics in treatment of such challenging psychiatric problems as posttraumatic stress disorder, major depression, substance use disorders, and end-of-life anxiety.
This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders.