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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.

Medicine. --- Human genetics. --- Molecular biology. --- Neurosciences. --- Biomedicine. --- Human Genetics. --- Molecular Medicine. --- Fragile X syndrome. --- Nervous system --- Diseases. --- Medical neurology --- Nerves --- Neuropathology --- fra(X) syndrome --- Diseases --- Neurologic disorders --- Neurological disorders --- Neurology --- Syndromes --- X-linked mental retardation --- Neural sciences --- Neurological sciences --- Neuroscience --- Medical sciences --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Pathology --- Physicians --- Genetics --- Heredity, Human --- Physical anthropology --- Health Workforce --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology

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In The 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.

Chromosome abnormalities. --- Fragile X syndrome. --- Tremor -- Genetic aspects. --- Tremor -- Therapy. --- Tremor. --- Fragile X syndrome --- Tremor --- Chromosome abnormalities --- Fragile X Syndrome --- Chromosome Fragility --- Genetics --- Ataxia --- Chromosome Fragile Sites --- Sex Chromosome Disorders --- Chromosomal Instability --- Dyskinesias --- Mental Retardation, X-Linked --- DNA Sequence, Unstable --- Biology --- Chromosome Disorders --- Biological Science Disciplines --- Genome Components --- Genomic Instability --- Neurologic Manifestations --- Chromosome Aberrations --- Heredodegenerative Disorders, Nervous System --- Genetic Diseases, X-Linked --- Mental Retardation --- Congenital Abnormalities --- Pathologic Processes --- Mutation --- Genetic Diseases, Inborn --- Natural Science Disciplines --- Neurobehavioral Manifestations --- Genetic Phenomena --- Nervous System Diseases --- Signs and Symptoms --- Genome --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Diseases --- Pathological Conditions, Signs and Symptoms --- Genetic Structures --- Genetic Variation --- Disciplines and Occupations --- Phenomena and Processes --- Pediatrics --- Pathology --- Medicine --- Health & Biological Sciences --- Genetic aspects --- fra(X) syndrome --- Medicine. --- Human genetics. --- Molecular biology. --- Neurosciences. --- Biomedicine. --- Human Genetics. --- Molecular Medicine. --- Syndromes --- X-linked mental retardation --- Neural sciences --- Neurological sciences --- Neuroscience --- Medical sciences --- Nervous system --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Physicians --- Heredity, Human --- Physical anthropology --- Health Workforce --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

In The 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.

Molecular biology --- Human genetics --- Neuropathology --- neurologie --- medische genetica --- genetica --- moleculaire biologie