LEADER 04631nam 2200553 450 001 9910798212203321 005 20230120002451.0 010 $a0-12-800533-5 035 $a(CKB)3710000000653960 035 $a(EBL)4517771 035 $a(MiAaPQ)EBC4517771 035 $a(EXLCZ)993710000000653960 100 $a20160518h20162016 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $2rdacontent 182 $2rdamedia 183 $2rdacarrier 200 10$aNeuronal and synaptic dysfunction in autism spectrum disorder and intellectual disability /$fCarlo Sala, Chiara Verpelli 210 1$aAmsterdam, Netherlands :$cAcademic Press,$d2016. 210 4$dİ2016 215 $a1 online resource (396 p.) 300 $aDescription based upon print version of record. 311 $a0-12-800109-7 320 $aIncludes bibliographical references at the end of each chapters and index. 327 $aFront 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 Mapping 327 $aCANDIDATE 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 ASD 327 $aBIOLOGICAL 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; References 327 $a4 - 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); DISCUSSION 327 $aID 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 ASD 327 $aImmune-Related Environmental Risk Factors 606 $aAutism in children$xDiagnosis 606 $aAutism in children$xTreatment 606 $aAutism Spectrum Disorder$xgenetics 606 $aNeurodegenerative Diseases$xgenetics 615 0$aAutism in children$xDiagnosis. 615 0$aAutism in children$xTreatment. 615 12$aAutism Spectrum Disorder$xgenetics. 615 22$aNeurodegenerative Diseases$xgenetics. 676 $a618.9285882 700 $aSala$b Carlo$0212649 702 $aVerpelli$b Chiara 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910798212203321 996 $aNeuronal and synaptic dysfunction in autism spectrum disorder and intellectual disability$93685810 997 $aUNINA