Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Détail de l'indexation
Ouvrages de la bibliothèque en indexation SCI-D (370)
Faire une suggestion Affiner la recherche
SHANK gene family and autism / Craig M. POWELL
Titre : SHANK gene family and autism Type de document : Texte imprimé et/ou numérique Auteurs : Craig M. POWELL, Auteur Année de publication : 2013 Importance : p.176-188 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 SHANK gene family and autism [Texte imprimé et/ou numérique] / Craig M. POWELL, Auteur . - 2013 . - p.176-188.
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
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : SHANK Mutations in Intellectual Disability and Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Michael J. SCHMEISSER, Auteur ; Chiara VERPELLI, Auteur Année de publication : 2016 Importance : p.151-160 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Intellectual disability Shank1 Shank2 Shank3 Synapse Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Mutations in the three human SHANK genes, which encode the postsynaptic scaffold proteins SHANK1, SHANK2, and SHANK3, are directly responsible for certain types of intellectual disability (ID) and in general for autism spectrum disorder (ASD). These neuropsychiatric conditions are caused by a generalized dysfunction of the brain, most probably owing to altered formation and plasticity of synaptic connections, thus leading to dysfunctional neuronal communication. Most interestingly, SHANK mutations affect individuals with a different grade of severity: that is, patients with SHANK3 mutations exhibit a strong ID and ASD phenotype, whereas patients with SHANK2 or SHANK1 mutations characteristically exhibit milder phenotypes. To summarize current knowledge about the effects of SHANK mutations on the pathogenesis of ID and ASD, we will discuss the impact of SHANK on synaptic function and highlight genotypic and phenotypic variations among mutations. Whereas the foundation of our knowledge on SHANK function began with in vitro studies, in vivo investigation of Shank mutant mice has further advanced our studies. Functional analysis of rodent Shank family members allows us to understand the role of these proteins better in brain development and in the pathogenesis of ID and ASD with the ultimate aim of identifying novel targets to develop effective therapies. With the recent discovery of human induced pluripotent stem cells, the ability to work on human neurons has opened up, potentially allowing for precise genetic mapping and possibly even personalized therapies to be developed. In this chapter, we will present an overview of SHANK function and SHANK mutations from the perspective of both in vitro and in vivo studies pointing to future directions where research on SHANK will likely go. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00010-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 SHANK Mutations in Intellectual Disability and Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Michael J. SCHMEISSER, Auteur ; Chiara VERPELLI, Auteur . - 2016 . - p.151-160.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Autism spectrum disorder Intellectual disability Shank1 Shank2 Shank3 Synapse Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Mutations in the three human SHANK genes, which encode the postsynaptic scaffold proteins SHANK1, SHANK2, and SHANK3, are directly responsible for certain types of intellectual disability (ID) and in general for autism spectrum disorder (ASD). These neuropsychiatric conditions are caused by a generalized dysfunction of the brain, most probably owing to altered formation and plasticity of synaptic connections, thus leading to dysfunctional neuronal communication. Most interestingly, SHANK mutations affect individuals with a different grade of severity: that is, patients with SHANK3 mutations exhibit a strong ID and ASD phenotype, whereas patients with SHANK2 or SHANK1 mutations characteristically exhibit milder phenotypes. To summarize current knowledge about the effects of SHANK mutations on the pathogenesis of ID and ASD, we will discuss the impact of SHANK on synaptic function and highlight genotypic and phenotypic variations among mutations. Whereas the foundation of our knowledge on SHANK function began with in vitro studies, in vivo investigation of Shank mutant mice has further advanced our studies. Functional analysis of rodent Shank family members allows us to understand the role of these proteins better in brain development and in the pathogenesis of ID and ASD with the ultimate aim of identifying novel targets to develop effective therapies. With the recent discovery of human induced pluripotent stem cells, the ability to work on human neurons has opened up, potentially allowing for precise genetic mapping and possibly even personalized therapies to be developed. In this chapter, we will present an overview of SHANK function and SHANK mutations from the perspective of both in vitro and in vivo studies pointing to future directions where research on SHANK will likely go. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00010-8 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 SHANK2 and SHANK3 Mutations Implicate Glutamate Signaling Abnormalities in Autism Spectrum Disorders / Hala HARONY-NICOLAS
Titre : SHANK2 and SHANK3 Mutations Implicate Glutamate Signaling Abnormalities in Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Hala HARONY-NICOLAS, Auteur ; Ozlem Bozdagi GUNAL, Auteur ; Joseph D. BUXBAUM, Auteur Année de publication : 2013 Importance : p.437-448 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Résumé : The SHANK family of genes encodes proteins (Shank1, 2, 3) that are core components of the postsynaptic density. Shank proteins contain multiple domains involved in protein-protein interactions, which link glutamate receptors to the actin cytoskeleton. Recent genetic and functional data implicate mutations in the human Shank2 and Shank3 genes in autism spectrum disorders (ASD). Several genetic mutations and rare copy number variants in these genes have been identified in ASD patients, with SHANK3 disruption now being one of the most common monogenic forms of ASD. Given that Shank and Shank promote the formation, maturation, and enlargement of dendritic spines, supporting the role of synaptic pathology in ASD, it becomes important to make use of animal (typically mouse and rat) models lacking Shanks, to study the underlying synaptic and neuronal pathophysiology of ASD. To this end, different Shank3 rodent models have been generated in an effort to explain the role of SHANK3 mutations in ASD, with the aim of identifying potential therapeutic targets for ASD that can also be tested in these animal models. In the current chapter we summarize in vitro and in vivo studies on Shank proteins, and relate these findings to the dysregulation of glutamate signaling in ASD. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 SHANK2 and SHANK3 Mutations Implicate Glutamate Signaling Abnormalities in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Hala HARONY-NICOLAS, Auteur ; Ozlem Bozdagi GUNAL, Auteur ; Joseph D. BUXBAUM, Auteur . - 2013 . - p.437-448.
Langues : Anglais (eng)
Index. décimale : SCI-D SCI-D - Neurosciences Résumé : The SHANK family of genes encodes proteins (Shank1, 2, 3) that are core components of the postsynaptic density. Shank proteins contain multiple domains involved in protein-protein interactions, which link glutamate receptors to the actin cytoskeleton. Recent genetic and functional data implicate mutations in the human Shank2 and Shank3 genes in autism spectrum disorders (ASD). Several genetic mutations and rare copy number variants in these genes have been identified in ASD patients, with SHANK3 disruption now being one of the most common monogenic forms of ASD. Given that Shank and Shank promote the formation, maturation, and enlargement of dendritic spines, supporting the role of synaptic pathology in ASD, it becomes important to make use of animal (typically mouse and rat) models lacking Shanks, to study the underlying synaptic and neuronal pathophysiology of ASD. To this end, different Shank3 rodent models have been generated in an effort to explain the role of SHANK3 mutations in ASD, with the aim of identifying potential therapeutic targets for ASD that can also be tested in these animal models. In the current chapter we summarize in vitro and in vivo studies on Shank proteins, and relate these findings to the dysregulation of glutamate signaling in ASD. 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 Shared chromosomal susceptibility regions between autism and other mental disorders / Yvon C. CHAGNON
Titre : Shared chromosomal susceptibility regions between autism and other mental disorders Type de document : Texte imprimé et/ou numérique Auteurs : Yvon C. CHAGNON, Auteur Année de publication : 2005 Importance : p.419-443 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=669 Shared chromosomal susceptibility regions between autism and other mental disorders [Texte imprimé et/ou numérique] / Yvon C. CHAGNON, Auteur . - 2005 . - p.419-443.
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=669 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Signes neuroradiologiques du traumatisme non accicentel / C. CHRISTOPHE
Titre : Signes neuroradiologiques du traumatisme non accicentel Type de document : Texte imprimé et/ou numérique Auteurs : C. CHRISTOPHE, Auteur ; G. GUISSARD, Auteur ; C. FONTEYNE, Auteur ; Bernard DAN, Auteur Année de publication : 2009 Importance : p.127-136 Langues : Français (fre) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=904 Signes neuroradiologiques du traumatisme non accicentel [Texte imprimé et/ou numérique] / C. CHRISTOPHE, Auteur ; G. GUISSARD, Auteur ; C. FONTEYNE, Auteur ; Bernard DAN, Auteur . - 2009 . - p.127-136.
Langues : Français (fre)
Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=904 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Size of the head and brain in autism : clue to underlying biologic mechanisms? / Karin B. NELSON
PermalinkSmith-Lemli-Opitz Syndrome and Role of Cholesterol in Autism / Geeta SARPHARE
PermalinkSocial Cognition at the Crossroads: Perspectives on Understanding Others / Tricia STRIANO
PermalinkSocial Cognition: Development, Neuroscience and Autism / Tricia STRIANO
PermalinkSocial Perception: Understanding Other People’s Intentions and Emotions through their Actions / Julie GREZES
PermalinkSocial skill training in autism spectrum disorders / Massimo MOLTENI
PermalinkSpectroscopic Brain Imaging in Autism / Janet E. LAINHART
PermalinkSpeech and language therapy intervention from the perspective of a multi-professional approach / Luciano DESTEFANIS
PermalinkSports extrêmes et prise de risques chez les jeunes / Linda PAQUETTE
PermalinkLa stimulation magnétique transcrânienne dans la dépression et la schizophrénie / Ghassen SABA
Permalink