Diseases of DNA Repair / edited by Shamim I. Ahmad.

Springer eBooks

Triple-A Syndrome -- Amyotrophic Lateral Sclerosis -- Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia/Ataxia with Oculomotor Apraxia -- Clinical Features and Pathogenesis of Alzheimer’s Disease: Involvement of Mitochondria and Mitochondrial DNA -- Huntington’s 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 Bloom’s syndrome, Werner’s syndrome, Nijmegen breakage syndrome, ataxia telangiectasia?like disorder, RA D 50 deficiency, RIDDLE syndrome and others will be presented in a forthcoming volume.

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