Diseases of DNA Repair [electronic resource] / edited by Shamim I. Ahmad.

Triple-A Syndrome -- Amyotrophic Lateral Sclerosis -- Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia/Ataxia with Oculomotor Apraxia -- Clinical Features and Pathogenesis of Alzheimers Disease: Involvement of Mitochondria and Mitochondrial DNA -- Huntingtons Disease -- Clinical Features and Molecular Mechanisms of Spinal and Bulbar Muscular Atrophy (SBMA) -- Spinocerebellar Ataxia with Axonal Neuropathy -- Tuberous Sclerosis Complex and DNA Repair -- Hereditary Photodermatoses -- Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome -- Cornelia de Lange Syndrome -- Rectal Cancer and Importance of Chemoradiation in the Treatment -- Familial Cutaneous Melanoma -- Primary Immunodeficiency Syndromes -- Inherited Defects of Immunoglobulin Class Switch Recombination -- Ligase IV Syndrome -- Muir-Torre Syndrome -- Wilms Tumor -- Cerebro-Oculo-Facio-Skeletal Syndrome -- Dyskeratosis Congenita -- Retinoblastoma -- Von Hippel Lindau Syndrome.

Since this book is geared to be used by varied groups of readers such as advanced students and instructors in the fields of biology and medicine, scientists and more importantly clinicians, it is considered important to provide brief accounts of the basics of DNA damage, repair, mutagenesis and cancer. The purpose of this book is to present an updated detailed account of some important additional diseases of DNA repair. It has not been possible to cover all the DNA repair deficient diseases in this volume, hence diseases such as Blooms syndrome, Werners syndrome, Nijmegen breakage syndrome, ataxia telangiectasialike disorder, RA D 50 deficiency, RIDDLE syndrome and others will be presented in a forthcoming volume.

ZDB-2-SBL