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Movement Disorder Genetics
This book covers recent developments and possible pitfalls in the diagnosis of genetic movement disorders and related conditions. It is divided into three sections: technical and scientific aspects; clinical aspects with guidance towards work-up; and ethical and legal aspects of genetic testing in a clinical and research setting. The first section includes chapters on genetic analysis and counselling with critical discussion of potential problems when interpreting the results. Clinical chapters summarize genetic forms of movement disorders including parkinsonism, tics and dystonia with algorithms for hands-on daily practice. Related conditions such as RLS, ataxias and dementias are also covered. Finally, chapters on ethical and legal aspects of genetic testing are included. Movement Disorder Genetics is aimed at clinicians and scientists working in the field of movement disorders and related conditions.
Brains, Genes, and the Foundations of Human Society
The last 20 years have yielded an explosion of information from the still nascent field of social neuroscience. Studies devoted to identifying neural correlates of social cognitive and moral judgment processing have established subcortical and cortical regions that are integral for how we filter and interpret information pertinent to family and friends, our social in-group, and strangers and engage in everything from forming immediate impressions of them to judging their behavior with respect to complex moral norms. What is less clear is how neural regions involved in implicit and explicit cognitive processing, or those cognitive processes that occur almost instantaneously as opposed to thos...
Molecular, Cellular and Model Organism Approaches for Understanding the Basis of Neurological Disease
The advent of next-generation sequencing technologies has resulted in a remarkable increase our understanding of human and animal neurological disorders through the identification of disease causing or protective sequence variants. However, in many cases, robust disease models are required to understand how changes at the DNA, RNA or protein level affect neuronal and synaptic function, or key signalling pathways. In turn, these models may enable understanding of key disease processes and the identification of new targets for the medicines of the future. This e-book contains original research papers and reviews that highlight either the impact of next-generation sequencing in the understanding of neurological disorders, or utilise molecular, cellular, and whole-organism models to validate disease-causing or protective sequence variants.
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families
Abstract: Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease. Objective: In this report, we describe two independent consanguineous families carrying pathogenic variants in TACO1, confirming the phenotype. Methods: Detailed clinical investigations and whole exome sequencing with haplotype analysis have been performed in several members of the two reported families. Results: Clinical phenotype of the patients confirms the originally reported phenotype of a childhood-onset progressive cerebellar and pyramidal syndrome with optic atrophy and learning ...
Encyclopedia of Molecular Mechanisms of Disease
This comprehensive encyclopedia supplies the reader with concise information on the molecular pathophysiology of disease. Entries include defined diseases (such as Parkinson's disease) as well as pathophysiological entities (such as tremor). The 1,200 essays are brilliantly structured to allow rapid retrieval of the desired information. For more detailed reading, each entry is followed by up to five references. Individual entries are written by leading experts in the respective area of research to ensure state-of-the-art descriptions of the mechanisms involved. It is an invaluable companion for clinicians and scientists in all medical disciplines.
Top Dog
Compete better... In a competitive situation our bodies can experience the same level of stress hormones as jumping out of a plane. Competition is often the key to outstanding achievement. But what is it that makes the difference between rising to the challenge and buckling under pressure? Using groundbreaking studies in diverse scientific fields, Bronson and Merryman demonstrate that understanding how to harness our competitive fire means we can perform our best – whether the contest is sporting, academic or in the workplace. Why are men typically prepared to gamble on long or even stupid odds and women aren’t? Why do some less talented students consistently outperform their smarter cla...
Spasticity
Since publication of the first edition, Spasticity: Diagnosis and Management has been the defining reference and go-to source for physicians, therapists, and other healthcare providers who care for patients with spasticity. For this new updated edition, Dr. Brashear and a diverse team of specialists have come together to integrate new research, clinical trials, measurement tools, therapies, and other recent advances that reflect this evolving field. The book is organized into four sections, each of which covers a broad scope of material. The first is a general overview of spasticity and its effects on movement in patients. Other chapters cover epidemiology and ancillary findings commonly ass...
