000			05590cam a2200469Ki 4500
988			_aSpringer_Medicine_2017
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008			170530s2017 sz ob 000 0 eng d
020			_a3319524984 _q(electronic bk.)
020			_a9783319524986 _q(electronic bk.)
020			_z3319524968
020			_z9783319524962
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050		4	_aRC553.A88 _b2017 EB
245	0	0	_aTranslational anatomy and cell biology of Autism spectrum disorder _cMichael J. Schmeisser, Tobias M. Boeckers, editors.
264		1	_aCham _bSpringer _c2017.
300			_a1 recurso en línea
336			_aTexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_atext file _bPDF
490	0		_aAdvances in anatomy, embryology and cell biology _v224
500			_aSpringerLink
504			_aIncluye referencias bibliográficas
505	0		_aPreface; Contents; Chapter 1: Anatomy and Cell Biology of Autism Spectrum Disorder: Lessons from Human Genetics; 1.1 Introduction; 1.2 From Chromosomal Rearrangements to Copy Number Variants in ASD; 1.3 From Candidate Genes to Whole Exome and Genome Sequencing Studies in ASD; 1.4 Rare and Common Variants in ASD; 1.5 Anatomy of ASD Genes; 1.6 From Genetics to Pathways Associated with ASD; 1.7 Protein Synthesis and Synaptic Plasticity; 1.8 Conclusions; References; Chapter 2: Neuroanatomy and Neuropathology of Autism Spectrum Disorder in Humans; 2.1 Introduction.
505	8		_a2.2 Early Brain Overgrowth in ASD During Early Childhood2.3 Neurobiological Mechanisms Mediating Brain Growth During Early Childhood (2 Years); 2.3.1 Cellular Mechanisms Underlying Typical Brain Maturation During Gestation and Early Childhood; 2.3.2 Cellular Mechanisms Underlying Atypical Early Brain Maturation in ASD; 2.4 Brain Development Across Late Childhood and Adolescence in ASD; 2.5 The Core Neural Systems Underlying ASD; 2.6 Microstructural Findings in the ASD Brain; 2.6.1 Cortical Neuropathology of ASD; 2.6.2 Limbic Neuropathology in ASD; 2.6.3 Cerebellar Neuropathology in ASD.
505	8		_a2.7 ConclusionsReferences; Chapter 3: Modelling Autistic Neurons with Induced Pluripotent Stem Cells; 3.1 Introduction; 3.2 The Need for Human Cellular Models; 3.3 Neural Differentiation of iPSCs; 3.4 Modelling ASD in a Dish Using iPSCs; 3.4.1 Fragile X Syndrome; 3.4.2 Rett Syndrome and MECP2 Duplication Syndrome; 3.4.3 Timothy Syndrome; 3.4.4 Phelan-McDermid Syndrome and SHANK3-Associated ASD; 3.4.5 Non-syndromic ASD; 3.5 Limitations of iPSCs; 3.6 Conclusions; References; Chapter 4: Modelling Autistic Features in Mice Using Quantitative Genetic Approaches; 4.1 Introduction.
505	8		_a4.1.1 Clinical Definition of ASD4.1.2 Prevalence; 4.1.3 Treatment; 4.1.4 Risk Factors; 4.1.5 Genetics; 4.2 Animal Models Based on Environmental and Genetic Findings; 4.2.1 Lesion Studies; 4.2.2 Foetal Valproate Syndrome; 4.2.3 Genetic Disorders; 4.3 Strengths and Limitations of Animal Models; 4.3.1 Construct Validity; 4.3.2 Predictive Validity; 4.3.3 Face Validity; 4.4 Evolutionary Perspective of Inherited Behaviours; 4.4.1 Communication and Social Behaviour; 4.4.2 Stereotyped and Restricted Behaviours; 4.4.3 Behavioural Development.
505	8		_a4.4.4 Genetic Background and Genotype-Phenotype Relationships4.5 Forward Genetic Approaches in Mice; 4.6 Continuous Variation in ASD-Related Behavioural Traits; 4.6.1 Modelling Genetic Diversity; 4.7 Conclusions; 4.7.1 Behavioural Responses and Evolutionary Conserved Processes; 4.7.2 Quantitative Biological Parameters; 4.7.3 Behavioural Trajectories and Therapeutic Intervention; References; Chapter 5: Behavioural Phenotypes and Neural Circuit Dysfunctions in Mouse Models of Autism Spectrum Disorder; 5.1 Introduction; 5.2 Social Behaviours; 5.3 Stereotyped Behaviours.
520	3		_aAutism spectrum disorder (ASD) affects approximately 1 % of the human population and is characterized by a core symptomatology including deficits in social interaction and repetitive patterns of behaviour plus various co-morbidities. Although a lot of progress has been made to uncover underlying causes and mechanisms throughout the last decade, we are still at the very beginning to understand this enormously complex neurodevelopmental condition. This special volume is focused on translational anatomy and cell biology of ASD. International experts from the field including several members of the EU-AIMS initiative launched by the European Union to develop novel treatments for ASD have contributed chapters on several topics covering all crucial aspects of translational ASD research with a special emphasis on ASD model systems including stem cells and animals. Primary objective is to clarify how anatomical and cell biological phenotypes of ASD will help to translate basic mechanisms to clinical practice and to efficiently treat affected individuals in the near future.
650		7	_2embne _aAutismo _9141122
650		7	_2embne _9162232 _aSíndrome de Asperger
700	1		_aBoeckers, Tobias M.
700	1		_aSchmeisser, Michael J.
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=http://link.springer.com/10.1007/978-3-319-52498-6 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b02/2018 _dz _e- _zSI