الصفحة 1
الصفحة 1
Neuroacanthocytosis Syndromes II
Awareness of neuroacanthocytosis disorders has increased significantly in recent years. There have been a number of important developments in the field since the publication of the first volume, Neuroacanthocytosis Syndromes. This book contains the latest research in this area. Recent advances have identified the range of mutations in the causative genes, shedding light on potential phenotypegenotype correlations. Studies of the proteins affected in these disorders have resulted in increased understanding of their functions and distribution. In vitro studies have identified potential protein interactions, which have important implications for pathophysiology. Work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes. Animal models are being generated which will greatly facilitate understanding the role of gene mutations in humans, and provide the foundation for possible therapeutic interventions. In addition, advances in other neurodegenerative disorders, such as Huntington’s and Parkinson’s diseases, have implications for neuroacanthocytosis.
La genetica nell’infertilità maschile = Genetics in male infertility
The notable recent cognitive advances in the field of cytogenetics and molecular genetics have made it possible to identify chromosomal anomalies and gene mutations responsible for numerous male infertility, which were completely ignored until recently. The fact is not without relevance, if the principle is valid that the recognition of the causes of a disease is also the first and necessary approach towards its correct therapy. With this publication, the authors wanted to offer specialists working in the field of assisted reproduction an update on this complex subject, dealing with both genetic causes in male infertility and infertility in genetic diseases.
