04631nam 2200553 450 991082906960332120230120002451.00-12-800533-5(CKB)3710000000653960(EBL)4517771(MiAaPQ)EBC4517771(EXLCZ)99371000000065396020160518h20162016 uy 0engur|n|---|||||rdacontentrdamediardacarrierNeuronal and synaptic dysfunction in autism spectrum disorder and intellectual disability /Carlo Sala, Chiara VerpelliAmsterdam, Netherlands :Academic Press,2016.©20161 online resource (396 p.)Description based upon print version of record.0-12-800109-7 Includes bibliographical references at the end of each chapters and index.Front Cover; NEURONAL AND SYNAPTIC DYSFUNCTION IN AUTISM SPECTRUM DISORDER AND INTELLECTUAL DISABILITY; Series page; NEURONAL AND SYNAPTIC DYSFUNCTION IN AUTISM SPECTRUM DISORDER AND INTELLECTUAL DISABILITY; Copyright; Contents; List of Contributors; Preface; Acknowledgments; I - AUTISM SPECTRUM DISORDERS AND INTELLECTUAL DISABILITY: GENETIC AND NON-GENETIC CAUSES; 1 - Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disab ...; POSITIONAL MAPPING; Linkage Mapping; Balanced Translocation Breakpoint Mapping; Autozygosity MappingCANDIDATE GENE APPROACHCOPY NUMBER VARIATIONS; Genome-wide CNV Detection Methods; Targeted CNV Detection Methods; NEXT-GENERATION SEQUENCING; Next-Generation Sequencing Platforms; Whole-Genome Sequencing Studies in ID and ASD; Exome Sequencing in ID and ASD; CONCLUSION; References; 2 - Genetic Causes of Autism Spectrum Disorders; INTRODUCTION; TWIN AND FAMILY STUDIES IN ASD; FROM CHROMOSOMAL REARRANGEMENTS TO COPY NUMBER VARIANTS IN ASD; FROM CANDIDATE GENES TO WHOLE EXOME/GENOME SEQUENCING STUDIES IN ASD; COMMON VARIANTS IN ASD; THE GENETIC ARCHITECTURE OF ASDBIOLOGICAL PATHWAYS ASSOCIATED WITH ASDPERSPECTIVES; Acknowledgments; References; 3 - Genetics of X-Linked Intellectual Disability; INTRODUCTION; HISTORY OF XLID; CLASSIFICATION OF XLID; Syndromal XLID; Nonsyndromal XLID; Genotype-Phenotype Correlation: Redefining XLID; DISEASE MECHANISMS; Presynaptic Vesicle Cycling and Transport; Cytoskeletal Dynamics; Cell-Adhesion and Transsynaptic Signaling; Translational Regulation, Protein Degradation, and Turnover; FUTURE CHALLENGES AND THERAPEUTIC APPROACHES; References4 - Genetic Causes of Intellectual Disability: The Genes Controlling Cortical DevelopmentINTRODUCTION; DEVELOPMENT OF THE MAMMALIAN BRAIN CORTEX; GENETIC BASES OF CORTICAL MALFORMATIONS AND THEIR CONTRIBUTION TO BETTER UNDERSTANDING NORMAL CORTICAL DEVELOPMENT; Malformations Resulting From Abnormal Neurogenesis; Malformations Resulting From Neuronal Migration Defects; Malformations Thought to Be Related to Late Migration and/or Postmigrational Defects; Malformations Resulting From Pial Basement Membrane Defects: Type II Lissencephaly (or Cobblestone Lissencephaly); DISCUSSIONID With Malformations of Cortical Development versus ID Without Apparent MalformationsMalformations of Cortical Development and ID: What Are the Perspectives to Reverse Cellular and Neurodevelopmental Defects?; Acknowledgments; References; 5 - Immune Dysfunction in Autism Spectrum Disorder; INTRODUCTION; IMMUNE ABNORMALITIES IN ASD; The Neuroimmune System; The Peripheral Immune System; Cellular Immunity; Blood Cytokines; Immunoglobulins; The Enteric Immune System; Neuroimmune Interactions; Peripheral Immune System-Brain Interactions; IMMUNE-RELATED SUSCEPTIBILITY FACTORS FOR ASDImmune-Related Environmental Risk FactorsAutism in childrenDiagnosisAutism in childrenTreatmentAutism Spectrum DisordergeneticsNeurodegenerative DiseasesgeneticsAutism in childrenDiagnosis.Autism in childrenTreatment.Autism Spectrum Disordergenetics.Neurodegenerative Diseasesgenetics.618.9285882Sala Carlo212649Verpelli ChiaraMiAaPQMiAaPQMiAaPQBOOK9910829069603321Neuronal and synaptic dysfunction in autism spectrum disorder and intellectual disability4113387UNINA