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"Updated to reflect the newest changes in genetics, Thompson &​ Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders."

"This book covers the basic concepts of epigenetic epidemiology, discusses challenges in study design, analysis, and interpretation, epigenetic laboratory techniques, the influence of of age and environmental factors on shaping the epigenome, the role of epigenetics in the developmental origins hypothesis, and provides the state of the art on the epigenetic epidemiology of various health conditions including childhood syndromes, cancer, infectious diseases, inflammation and rheumatoid arthritis, asthma, autism and other neurodevelopmental disorders, psychiatric disorders, diabetes, obesity and metabolic disorders, and atherosclerosis."

"Essentials of the Cerebellum and Cerebellar Disorders is the first book of its kind written specifically for graduate students and clinicians. It is based on the 4-volume treatise, Handbook of the Cerebellum and Cerebellar Disorders (Springer, 2013), the definitive reference for scientists and neurologists in the field of cerebellar neurobiology. There have been fundamental advances in the basic science and clinical neurology of the cerebellum and its role in sensorimotor function and cognition. This monograph makes this large and expanding body of knowledge readily accessible to trainees and clinicians alike. The editors are world leaders in the field, and the chapters are authored by an international panel of experts drawn from ataxia clinics and cerebellar laboratories throughout North America, Europe and Asia. Essentials provides a solid grounding in the field of cerebellar research and ataxiology from cerebellar circuity to clinical practice, and it serves as a springboard to a deeper appreciation of both the principles and the complexities of cerebellar neurobiology. Clinicians are expected to have a deep appreciation of cerebellar disorders, not only in specialized ataxia clinics but also in adult and pediatric neurology, neurosurgery, psychiatry and neuropsychology practices, and in outpatient and inpatient rehabilitation settings. This book is an indispensable resource for students and practitioners navigating the evolving field of cerebellar motor and cognitive neurology. It also links to the more expansive Handbook for those who need to explore the topics in this monograph in greater depth."

"Mitochondria are far more than the “powerhouse” of the cell as they have classically been described. In fact, mitochondria biological activities have progressively expanded to include not only various bioenergetic processes but also important biosynthetic pathways, calcium homeostasis and thermogenesis, cell death by apoptosis, several different signal transduction pathways mainly related to redox control of gene expression and so on. This functional and structural complexity may undergo important derangements so to justify the definition of ‘mitochondrial medicine’, which should include all the clinical consequences of congenital or acquired mitochondrial dysfunctions. There are actually a growing number of studies which assign a significant pathogenic role to damaged mitochondria in different diseases: ischemia/reperfusion injury, neurodegenerative diseases, cancer with its dramatic sequelae (i.e, metastasis), metabolic syndrome, hyperlipidemias, just to mention a few of the most important pathologies. In this context, a further aspect that should not be disregarded is the interaction of pharmacological agents with mitochondria, not only in regard of the toxicological aspects but, above all, of the potential therapeutic applications. In fact, it is interesting to note that, while the properties of different so-called “mitoxicants” are well-known, the subtle linkages between drugs and mitochondria is still in need of a real pharmacological and therapeutic control at the clinical level. "

"Genetic testing has become commonplace, and clinicians are frequently able to use knowledge of an individual’s specific genetic differences to guide their course of action. Molecular genetics and personalized medicine highlights developments that have been made in the field of molecular genetics and how they have been applied clinically. It will serve as a useful reference for physicians hoping to better understand the role of molecular medicine in clinical practice. In addition, it should also prove to be an invaluable resource for the basic scientist that wants to better understand how advances in the laboratory are being moved from the bench to the bedside. All chapters are written by experts in their fields and include the most up to date medical information. The authors simplify complex genetic concepts and focus on practical patient related issues. "

"The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. "

"This guide represents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice, numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC."