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Hereditary Optic Neuropathies: A New Perspective
Topic Editor Valerio Carelli received financial support from Stealth BioTherapeutics. The other Topic Editors declare no competing interests with regard to the Research Topic subject.
Oxidative Phosphorylation in Health and Disease
Mitochondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mitochondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book includes updates on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, information on traditional diagnostical methodologies, and an overview of the diagnostic promise of new technologies. The hypermetabolism of Luft disease, although only seen twice, is also studied. There are critical reviews of symptoms and signs associated with syndromes, as well as updates on the genetic defects of either the mitochondrial or the nuclear genome responsible for many disorders.
Clinical Ophthalmic Genetics and Genomics
Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. - A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders - Expert guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers - Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room
Clinical Mitochondrial Medicine
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Case Reports in Neurogenetics, volume III - 2023
This Research Topic aims to collect all the Case Reports submitted to the Neurogenetics. All the Case Reports submitted to this collection will be personally assessed by a senior Associate Editor before the beginning of the peer-review process. Please make sure your article adheres to the following guidelines before submitting it. Case Reports highlight unique cases of patients that present with an unexpected diagnosis, treatment outcome, or clinical course.
The Pupil: Behavior, Anatomy, Physiology and Clinical Biomarkers
This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.
Diagnosis and Management of Mitochondrial Disorders
This book will help readers navigate the complexity of mitochondrial disorders, by addressing the role of mitochondrial dysfunction and the complex pathophysiological mechanisms associated with a growing number of illnesses, not only of neurological interest. Further, it provides updated concepts on genotype-phenotype correlations, clinical syndromes, diagnostic algorithms and therapies. Written by the world’s foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists and biologists.
Mitochondrial Disorders in Neurology 2
Gain practical explanations of the science underlying mitochondrial disorders in neurology. Written by leading experts, this new Blue Book helps you recognize and manage the diseases. Includes: Sections on the role of mitochondria in neurodegenerative disease The development of animal models for mitochondrial diseases The design of treatments for patients with mitochondrial defects
