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Trials for Cerebellar Ataxias - From Cellular Models to Human Therapies (Hardcover, 1st ed. 2023): Bing-wen Soong, Mario Manto,... Trials for Cerebellar Ataxias - From Cellular Models to Human Therapies (Hardcover, 1st ed. 2023)
Bing-wen Soong, Mario Manto, Alexis Brice, Stefan M. Pulst
R6,475 Discovery Miles 64 750 Ships in 10 - 15 working days

Despite the critical importance of the cerebellum in brain function, the scientific community still lacks effective treatments for most cerebellar ataxias.  This book provides  a link between the pathogenesis and therapies of cerebellar ataxias while also providing a comprehensive assessment of the preclinical and clinical trials dedicated to cerebellar ataxias over the past 20 years of progress.  This is the first book fully dedicated to the trials and therapies of these disorders. It is a truly authoritative and comprehensive reference, and comes at a time of major advances in genetic tools and neuroimaging assessments.  The coverage begins by laying a foundation of the basic science of the cerebellum and ataxias, proceeds to discuss biomarkers and the tools of trials, offers guidelines on conducting trials,  and then explores the full range of therapeutics and their trials, including gene therapy and cell transplantation. The authors are top experts on cerebellar research and the contributing authors have all made seminal contributions in the field.

Neurogenetics (Hardcover): Stefan M. Pulst Neurogenetics (Hardcover)
Stefan M. Pulst
R2,914 Discovery Miles 29 140 Ships in 10 - 15 working days

Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate
tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine major neurologic disorders caused by single defects,
as well as disease phenotypes such as Alzheimer disease or amyotrophic lateral sclerosis which may be caused by defects in single genes, but may also be seen as sporadic diseases. The genetic components of other common neurologic disorders, such as epilepsy, multiple sclerosis, migraine, and stroke
are all covered in detail. The final chapter discusses genetic counseling of symptomatic and pre-symptomatic individuals. Throughout, chapters discuss genotype/phenotype correlations and, where appropriate, animal models for inherited human neurologic diseases. Several chapters are devoted to
recently discovered diseases caused by unstable DNA repeats. Special emphasis is placed on conveying how DNA testing can be applied to the daily practice of geneticists and neurologists.

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