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Neurogenetics for the Practitioner
Neurogenetics is a growing field, providing a clear link between clinical characteristics of phenotypes and exact molecular tests to reach a specific diagnosis. Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. The first section introduces the reader to an overview of genetic principles, including practical applications in relation to diagnosis and current limitations. Additional chapters highlight how to workup patients presenting with certain features including cerebral palsy/intellectual disability, congenital muscular dystrophy, cognitive decline/dementia, peripheral neuropathy, and paroxysmal disorder. The final section explores therapeutic strategies based on genetic interventions and genetic counselling options. Internationally contributed, this book will become the essential reference guide for neurologist. Reviews genetic testing for diagnostic confirmation, including carrier testing and prenatal diagnosis Explores various therapeutic strategies based on genetic interventions Discusses when a neurologic problem may have an underlying genetic cause
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.
Textbook of Ion Channels
The Textbook of Ion Channels is a set of three volumes providing a wide-ranging reference source on ion channels for students, instructors, and researchers. Ion channels are membrane proteins that control the electrical properties of neurons and cardiac cells, mediate the detection and response to sensory stimuli like light, sound, odor, and taste, and regulate the response to physical stimuli like temperature and pressure. In non-excitable tissues, ion channels are instrumental for the regulation of basic salt balance that is critical for homeostasis. Ion channels are located at the surface membrane of cells, giving them the unique ability to communicate with the environment, as well as the...
Textbook of Ion Channels Volume II
The Textbook of Ion Channels is a set of three volumes that provides a wide-ranging refer- ence source on ion channels for students, instructors and researchers. Ion channels are membrane proteins that control the electrical properties of neurons and cardiac cells; mediate the detection and response to sensory stimuli like light, sound, odor, and taste; and regulate the response to physical stimuli like temperature and pressure. In non-excit- able tissues, ion channels are instrumental for the regulation of basic salt balance that is critical for homeostasis. Ion channels are located at the surface membrane of cells, giving them the unique ability to communicate with the environment, as well...
The Microtubule Cytoskeleton
This book provides an overview on the organization and function of the microtubule cytoskeleton, which is essential to many cellular processes and profoundly linked to a range of human diseases. Covering basic concepts as well as molecular details, the book discusses how microtubules are nucleated and organized into ordered arrays, at different cell cycle stages and in distinct cell types. In addition, the book highlights how defects in the microtubule cytoskeleton are linked to diseases such as neurodevelopmental disorders. The book is intended for students, graduates and more senior researchers in cell and developmental biology as well as for medical doctors.
Mechanistic Toxicology
A thorough understanding of cellular and molecular mechanisms involved in the individual expression of toxic effects provides an important tool for assessment of human health risk. New aspects, major advances, and new areas in molecular and cellular biology and toxicology demand updated sources of information to elucidate the functional mechanics of human toxicology. Mechanistic Toxicology: The Molecular Basis of How Chemicals Disrupt Biological Targets, Second Edition retains the accessible format of the original to present the general principles that link xenobiotic-induced toxicity with the molecular pathways that underlie these toxic effects. Extensively illustrated, this book forms a co...
Genetics in Ophthalmology
The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.
Clubfoot
Clubfoot is a common deformity but remains unsolved. Detailed epidemiology has been described to assess the socio-economic impact. All corrective methods are enumerated, highlighting their efficacy and pitfalls. The importance of each clubfoot case being different and the means of dealing it is emphasized upon. This is a comprehensive book on Clubfoot with the types and their mode of treatment extensively discussed. Also, Clubfoot differences during birth, additional birth defects, weight bearing effect with age, previous scars, trauma and other complications are covered. Key Features A comprehensive book on Clubfoot Explained the different kinds of clubfoot Evidence based description of each clubfoot being different Updated with the latest treatment techniques Comparative analysis of various treatment options
