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Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2–q13 Duplications / Jerzy WEGIEL
Titre : Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2–q13 Duplications Type de document : Texte imprimé et/ou numérique Auteurs : Jerzy WEGIEL, Auteur ; N. Carolyn SCHANEN, Auteur ; Edwin H. Jr COOK, Auteur ; W. Ted BROWN, Auteur ; Izabela KUCHNA, Auteur ; Krzysztof NOWICKI, Auteur ; Jarek WEGIEL, Auteur ; Humi IMAKI, Auteur ; Shuang Yong MA, Auteur ; Eric LONDON, Auteur ; Thomas WISNIEWSKI, Auteur Année de publication : 2013 Importance : p.347-359 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Postmortem studies of brains of individuals with idiopathic autism and 15q11.2–q13 duplications autism (dup(15)) identify a cluster of neuropathological features differentiating these cohorts. They show a need for both reclassification of autism according to etiology, clinical presentation and neuropathology, and a commonality of clinical and neuropathological traits justifying autism diagnosis. The features differentiating these cohorts include: (a) maternal origin in patients with dup(15); (b) autism in 78% of subjects; (c) more severe clinical phenotypes, with intellectual deficit (100%), early-onset of severe or intractable seizures in 78% of subjects, and increased prevalence (up to 67%) of sudden unexplained death; (d) high prevalence of microcephaly, with mean brain weight 300g less than in idiopathic autism; (e) several-fold increase in the number of developmental abnormalities, including defects of migration and dysplastic changes, especially numerous in the hippocampal formation; and (f) significant increase in the intraneuronal amyloid load, reflecting enhanced amyloid-? precursor protein processing with ?-secretase. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2–q13 Duplications [Texte imprimé et/ou numérique] / Jerzy WEGIEL, Auteur ; N. Carolyn SCHANEN, Auteur ; Edwin H. Jr COOK, Auteur ; W. Ted BROWN, Auteur ; Izabela KUCHNA, Auteur ; Krzysztof NOWICKI, Auteur ; Jarek WEGIEL, Auteur ; Humi IMAKI, Auteur ; Shuang Yong MA, Auteur ; Eric LONDON, Auteur ; Thomas WISNIEWSKI, Auteur . - 2013 . - p.347-359.
Langues : Anglais (eng)
Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Postmortem studies of brains of individuals with idiopathic autism and 15q11.2–q13 duplications autism (dup(15)) identify a cluster of neuropathological features differentiating these cohorts. They show a need for both reclassification of autism according to etiology, clinical presentation and neuropathology, and a commonality of clinical and neuropathological traits justifying autism diagnosis. The features differentiating these cohorts include: (a) maternal origin in patients with dup(15); (b) autism in 78% of subjects; (c) more severe clinical phenotypes, with intellectual deficit (100%), early-onset of severe or intractable seizures in 78% of subjects, and increased prevalence (up to 67%) of sudden unexplained death; (d) high prevalence of microcephaly, with mean brain weight 300g less than in idiopathic autism; (e) several-fold increase in the number of developmental abnormalities, including defects of migration and dysplastic changes, especially numerous in the hippocampal formation; and (f) significant increase in the intraneuronal amyloid load, reflecting enhanced amyloid-? precursor protein processing with ?-secretase. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire CNTNAP2 and autism spectrum disorders / Olga PENAGARIKANO
Titre : CNTNAP2 and autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Olga PENAGARIKANO, Auteur ; Daniel H. GESCHWIND, Auteur Année de publication : 2013 Importance : p.274-285 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 CNTNAP2 and autism spectrum disorders [Texte imprimé et/ou numérique] / Olga PENAGARIKANO, Auteur ; Daniel H. GESCHWIND, Auteur . - 2013 . - p.274-285.
Langues : Anglais (eng)
Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 Exemplaires
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in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : CNTNAP2 Mutations in Autism Type de document : Texte imprimé et/ou numérique Auteurs : Olga PENAGARIKANO, Auteur Année de publication : 2016 Importance : p.177-188 Langues : Anglais (eng) Mots-clés : ASD Autism CDFE CNTNAP2 Social behavior Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Autism spectrum disorders (ASDs) comprise a phenotypically and genetically heterogeneous condition characterized by deficits in social behavior and communication together with the presence of repetitive and restrictive behaviors. Autism spectrum disorder has a strong genetic component and mutations/variants in many genes have been identified as predisposing to ASD. The contactin-associated protein-like 2 (CNTNAP2) gene is one of the most replicated through interdisciplinary studies, supported by neurobiological, genetic, and imaging data. An understanding of the mechanistic link between genes and behavior is critical to developing targeted treatments. This chapter discusses the clinical genetics and current understanding of the biology of CNTNAP2 as related to ASD. Current multidisciplinary research approaches in both human subjects and animal models help us understand the pathophysiology associated with the goal of developing new treatments. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00012-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 CNTNAP2 Mutations in Autism [Texte imprimé et/ou numérique] / Olga PENAGARIKANO, Auteur . - 2016 . - p.177-188.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : ASD Autism CDFE CNTNAP2 Social behavior Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Autism spectrum disorders (ASDs) comprise a phenotypically and genetically heterogeneous condition characterized by deficits in social behavior and communication together with the presence of repetitive and restrictive behaviors. Autism spectrum disorder has a strong genetic component and mutations/variants in many genes have been identified as predisposing to ASD. The contactin-associated protein-like 2 (CNTNAP2) gene is one of the most replicated through interdisciplinary studies, supported by neurobiological, genetic, and imaging data. An understanding of the mechanistic link between genes and behavior is critical to developing targeted treatments. This chapter discusses the clinical genetics and current understanding of the biology of CNTNAP2 as related to ASD. Current multidisciplinary research approaches in both human subjects and animal models help us understand the pathophysiology associated with the goal of developing new treatments. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00012-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Commentary: How Social is Social Cognition? / Simon BARON-COHEN
Titre : Commentary: How Social is Social Cognition? Type de document : Texte imprimé et/ou numérique Auteurs : Simon BARON-COHEN, Auteur Année de publication : 2009 Importance : p.323-329 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=714 Commentary: How Social is Social Cognition? [Texte imprimé et/ou numérique] / Simon BARON-COHEN, Auteur . - 2009 . - p.323-329.
Langues : Anglais (eng)
Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=714 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Commentary: Mutual Recognition as a Foundation of Sociality and Social Comfort / Philippe ROCHAT
Titre : Commentary: Mutual Recognition as a Foundation of Sociality and Social Comfort Type de document : Texte imprimé et/ou numérique Auteurs : Philippe ROCHAT, Auteur Année de publication : 2009 Importance : p.303-317 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=714 Commentary: Mutual Recognition as a Foundation of Sociality and Social Comfort [Texte imprimé et/ou numérique] / Philippe ROCHAT, Auteur . - 2009 . - p.303-317.
Langues : Anglais (eng)
Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=714 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Commentary on Social Cognition: Development, Neuroscience, and Autism / Charles A. III NELSON
PermalinkCommon Genetic Variants in Autism Spectrum Disorders / Richard ANNEY
PermalinkLa communication et ses troubles après lésion du système nerveux central / Marie-Claire GOLDBLUM
PermalinkComplementary and alternative medicine in treating autism: myths and reality / Laurence ROBEL
PermalinkLes comportements dérangeants chez l’enfant: difficulté d’adaptation ou psychopathologie ? / Joël MONZEE
PermalinkConclusion: Integrating Neurocognitive, Diagnostic, and Intervention Perspectives in Autism / Susan R. LEEKAM
PermalinkLa contribution de la neuroimagerie fonctionnelle à l'étude des émotions humaines / Alexandre SCHAEFER
PermalinkContributions de la recherche clinique et neuroscientifique à la compréhension de l’hypnose / Pierre RAINVILLE
PermalinkConventional neuroimaging in autism / Alessandra ERBETTA
PermalinkCopy Number Variation in Autism Spectrum Disorders / Christian R. MARSHALL
PermalinkCorpus callosum and autism / Lawrence K. FUNG
PermalinkCorrelates of psychomotor symptoms in autism / Laura STOPPELBEIN
PermalinkCorrélats physiologiques, neuroanatomiques et neurophysiologiques de l'alexithymie / Nicolas VERMEULEN
PermalinkCulture and Understanding Other Minds / Penelope G. VINDEN
PermalinkCurrent Trends in the Pharmacological Treatment of Autism Spectrum Disorders / Alexander KOLEVZON
PermalinkLes débuts de la perception et de la cognition chez le jeune enfant / Arlette STRERI
PermalinkDémarche clinique en neurologie du développement / Claudine AMIEL-TISON
PermalinkDeveloping Social Interaction and Understanding in High-Functioning Individuals With Autism Spectrum Disorder / Aline-Wendy DUNLOP
PermalinkDeveloping understandings of mind / Henry M. WELLMAN
PermalinkDevelopment of the Social Brain during Adolescence / Sarah-Jayne BLAKEMORE
PermalinkDéveloppement et anomalies du système nerveux / Stéphane LOURYAN
PermalinkLe développement psychomoteur de l’enfant jusqu’à trois ans / Marie FARMER
PermalinkDiagnostic des tumeurs cérébrales supra-tentorielles de l'enfant / P. DAVID
PermalinkDiffusion Tensor Magnetic Resonance Imaging in Autism / Brittany G. TRAVERS
PermalinkDIR–Developmental, Individual Difference, Relationship-Based Model: the sensory-motor affect connection to progress / Serena WIEDER
PermalinkDirectedness, Egocentrism, and Autism / Justin H.G. WILLIAMS
PermalinkDiscrete Cortical Neuropathology in Autism Spectrum Disorders / Neha UPPAL
PermalinkDisease Entities with a Temporary Autistic Phase : The Autistic Features of Rett Syndrome / Yoshiko NOMURA
PermalinkLa distinction entre intérieur et extérieur: recoupements entre Freud et neurosciences modernes / Ariane BAZAN
PermalinkDo Adolescents Simulate? Developmental Studies of the Human Mirror Neuron System / Marco IACOBONI
PermalinkDo chimpanzees use their gestures to instruct each other ? / Daniel J. POVINELLI
PermalinkDTI and Tractography in the Autistic Brain / Timothy P.L. ROBERTS
PermalinkEarly Manifestations of Autism Spectrum Disorders / Marianne L. BARTON
PermalinkEarly psychomotor intervention in the treatment of young children with autism spectrum disorder / Roberto MILITERNI
PermalinkEarly theories of mind: what the theory can tell us about autism / Alison GOPNICK
PermalinkEEG Analyses in the Assessment of Autistic Disorders / Robert COBEN
PermalinkEffects of secretin on extracellular GABA and other amino acid concentrations in the rat hippocampus / Hans-Willi CLEMENT
PermalinkElectrophysiology of error processing in individuals with autism spectrum disorder. A meta-analysis / Wen-Pin CHANG
PermalinkÉmotion, mouvement et psychothérapie: organisation neurophysiologique et implications cliniques / Joël MONZEE
PermalinkEmpathie et moralité: vers une integration des approches sociales et neuroscientifiques / Jean DECETY
PermalinkL'enfant IMC ou atteint d'une encéphalopathie chronique: aspects radiologiques / C. CHRISTOPHE
PermalinkEpidemiology of Autism Spectrum Disorders / Lisa R. FRENCH
PermalinkEpigenetic Dysregulation of 15q11-13 GABAA Receptor Genes in Autism / Amber HOGART
PermalinkEpilepsie et tumeur cérébrale chez l'enfant / P. VAN BOGAERT
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