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Auteur Joseph D. BUXBAUM |
Documents disponibles écrits par cet auteur (67)
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The Effect of an Autism-Associated Polymorphism in the STK39 Gene on the Autism Symptom Domains / Rick D. VAVOLIZZA in Journal of Autism and Developmental Disorders, 42-2 (February 2012)
[article]
Titre : The Effect of an Autism-Associated Polymorphism in the STK39 Gene on the Autism Symptom Domains Type de document : Texte imprimé et/ou numérique Auteurs : Rick D. VAVOLIZZA, Auteur ; James SCHMEIDLER, Auteur ; Nicolas RAMOZ, Auteur ; Joseph D. BUXBAUM, Auteur ; Christopher J. SMITH, Auteur ; Jeremy M. SILVERMAN, Auteur Année de publication : 2012 Article en page(s) : p.319-320 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-011-1226-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=151
in Journal of Autism and Developmental Disorders > 42-2 (February 2012) . - p.319-320[article] The Effect of an Autism-Associated Polymorphism in the STK39 Gene on the Autism Symptom Domains [Texte imprimé et/ou numérique] / Rick D. VAVOLIZZA, Auteur ; James SCHMEIDLER, Auteur ; Nicolas RAMOZ, Auteur ; Joseph D. BUXBAUM, Auteur ; Christopher J. SMITH, Auteur ; Jeremy M. SILVERMAN, Auteur . - 2012 . - p.319-320.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-2 (February 2012) . - p.319-320
Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-011-1226-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=151 The Immersive Theater Experience for Individuals with Autism Spectrum Disorder / Ivy GISERMAN-KISS in Journal of Autism and Developmental Disorders, 50-3 (March 2020)
[article]
Titre : The Immersive Theater Experience for Individuals with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Ivy GISERMAN-KISS, Auteur ; Michelle GORENSTEIN, Auteur ; Elyana FELDMAN, Auteur ; Mikaela ROWE, Auteur ; Hannah GROSMAN, Auteur ; Jordana WEISSMAN, Auteur ; Audrey ROUHANDEH, Auteur ; Emma WILKINSON, Auteur ; Kristin MEYERING, Auteur ; Allison DURKIN, Auteur ; Emily ISENSTEIN, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur ; Paige M. SIPER, Auteur Article en page(s) : p.1073-1080 Langues : Anglais (eng) Mots-clés : Asd Accessibility Autism spectrum disorder Immersive theater Theater Theatre Index. décimale : PER Périodiques Résumé : Despite growing public awareness of ASD, many caregivers of children with ASD struggle to find opportunities for participation in community activities with appropriate accommodations. The current study evaluated the experiences of individuals with ASD who attended immersive theater performances specifically designed for individuals with ASD. Parents and teachers of 256 children and adolescents completed questionnaires regarding their pre-show expectations and post-show satisfaction with the performance. Analyses revealed that, on average, parents' and teachers' levels of satisfaction significantly outweighed their pre-show expectations. Based on researcher observations, audience feedback, and past research, a list of best practices for successful theater programming for individuals with ASD was compiled with the goal of widespread dissemination to increase accessibility of theater performances for neurodiverse audiences. En ligne : http://dx.doi.org/10.1007/s10803-019-04284-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420
in Journal of Autism and Developmental Disorders > 50-3 (March 2020) . - p.1073-1080[article] The Immersive Theater Experience for Individuals with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Ivy GISERMAN-KISS, Auteur ; Michelle GORENSTEIN, Auteur ; Elyana FELDMAN, Auteur ; Mikaela ROWE, Auteur ; Hannah GROSMAN, Auteur ; Jordana WEISSMAN, Auteur ; Audrey ROUHANDEH, Auteur ; Emma WILKINSON, Auteur ; Kristin MEYERING, Auteur ; Allison DURKIN, Auteur ; Emily ISENSTEIN, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur ; Paige M. SIPER, Auteur . - p.1073-1080.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-3 (March 2020) . - p.1073-1080
Mots-clés : Asd Accessibility Autism spectrum disorder Immersive theater Theater Theatre Index. décimale : PER Périodiques Résumé : Despite growing public awareness of ASD, many caregivers of children with ASD struggle to find opportunities for participation in community activities with appropriate accommodations. The current study evaluated the experiences of individuals with ASD who attended immersive theater performances specifically designed for individuals with ASD. Parents and teachers of 256 children and adolescents completed questionnaires regarding their pre-show expectations and post-show satisfaction with the performance. Analyses revealed that, on average, parents' and teachers' levels of satisfaction significantly outweighed their pre-show expectations. Based on researcher observations, audience feedback, and past research, a list of best practices for successful theater programming for individuals with ASD was compiled with the goal of widespread dissemination to increase accessibility of theater performances for neurodiverse audiences. En ligne : http://dx.doi.org/10.1007/s10803-019-04284-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420 The Neuroscience of Autism Spectrum Disorders / Joseph D. BUXBAUM
Titre : The Neuroscience of Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Joseph D. BUXBAUM, Directeur de publication ; Patrick R. HOF, Directeur de publication Editeur : Issy les Moulineaux [France] : Academic Press Année de publication : 2013 Importance : 480 p. Présentation : ill. Format : 22cm x 28,5cm x 2,5cm ISBN/ISSN/EAN : 978-0-12-391924-3 Note générale : Bibliogr., Index Langues : Anglais (eng) Mots-clés : Facteurs de risque Immunologie, Hormones Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Autism is no longer considered a rare disease, and the Center for Disease Control now estimates that upwards of 730,000 children in the US struggle with this isolating brain disorder. New research is leading to greater understanding of and ability to treat the disorder at an earlier age. It is hoped that further genetic and imaging studies will lead to biologically based diagnostic techniques that could help speed detection and allow early, more effective intervention.
Edited by two leaders in the field, this volume offers a current survey and synthesis of the most important findings of the neuroscience behind autism of the past 20 years. With chapters authored by experts in each topic, the volume explores etiology, neuropathology, imaging, and pathways/models. Offering a broad background of ASDs with a unique focus on neurobiology, the volume offers more than the others on the market with a strictly clinical focus or a single authored perspective that fails to offer expert, comprehensive coverage. Researchers and graduate students alike with an interest in developmental disorders and autism will benefit, as will autism specialists across psychology and medicine looking to expand their expertise. [Résumé d'Auteur/Editeur]Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 The Neuroscience of Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Joseph D. BUXBAUM, Directeur de publication ; Patrick R. HOF, Directeur de publication . - Issy les Moulineaux [France] : Academic Press, 2013 . - 480 p. : ill. ; 22cm x 28,5cm x 2,5cm.
ISBN : 978-0-12-391924-3
Bibliogr., Index
Langues : Anglais (eng)
Mots-clés : Facteurs de risque Immunologie, Hormones Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Autism is no longer considered a rare disease, and the Center for Disease Control now estimates that upwards of 730,000 children in the US struggle with this isolating brain disorder. New research is leading to greater understanding of and ability to treat the disorder at an earlier age. It is hoped that further genetic and imaging studies will lead to biologically based diagnostic techniques that could help speed detection and allow early, more effective intervention.
Edited by two leaders in the field, this volume offers a current survey and synthesis of the most important findings of the neuroscience behind autism of the past 20 years. With chapters authored by experts in each topic, the volume explores etiology, neuropathology, imaging, and pathways/models. Offering a broad background of ASDs with a unique focus on neurobiology, the volume offers more than the others on the market with a strictly clinical focus or a single authored perspective that fails to offer expert, comprehensive coverage. Researchers and graduate students alike with an interest in developmental disorders and autism will benefit, as will autism specialists across psychology and medicine looking to expand their expertise. [Résumé d'Auteur/Editeur]Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 Contenu
- Epidemiology of Autism Spectrum Disorders / Lisa R. FRENCH
- The Behavioral Manifestations of Autism Spectrum Disorders / So Hyun KIM
- Early Manifestations of Autism Spectrum Disorders / Marianne L. BARTON
- Asperger Syndrome and its Relationships to Autism / James C. MCPARTLAND
- Behavioral and Psychosocial Interventions for Individuals with ASD / Latha V. SOORYA
- Current Trends in the Pharmacological Treatment of Autism Spectrum Disorders / Alexander KOLEVZON
- Novel Therapeutics in Autism Spectrum Disorders / Evdokia ANAGNOSTOU
- Etiological Heterogeneity in Autism Spectrum Disorders: Role of Rare Variants / Catalina BETANCUR
- Copy Number Variation in Autism Spectrum Disorders / Christian R. MARSHALL
- Common Genetic Variants in Autism Spectrum Disorders / Richard ANNEY
- Next-Generation Sequencing For Gene and Pathway Discovery and Analysis in Autism Spectrum Disorders / Guiqing CAI
- Mitochondria and Autism Spectrum Disorders / Robert K. NAVIAUX
- Parental and Perinatal Risk Factors for Autism: Epidemiological Findings and Potential Mechanisms / Sven SANDIN
- The Environment in Autism Spectrum Disorders / Kristen LYALL
- Hormonal Influences in Typical Development: Implications for Autism / Bonnie AUYEUNG
- Immune Abnormalities and Autism Spectrum Disorders / Majannie ELOI AKINTUDE
- Structural and Functional MRI Studies of Autism Spectrum Disorders / Kimberly A. STIGLER
- DTI and Tractography in the Autistic Brain / Timothy P.L. ROBERTS
- Attentional Network Deficits in Autism Spectrum Disorders / Jin FAN
- The Cerebellum in Autism Spectrum Disorders / Margaret L. BAUMAN
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Code-barres Cote Support Localisation Section Disponibilité DOC0002321 SCI-D BUX Livre Centre d'Information et de Documentation du CRA Rhône-Alpes SCI - Disciplines Scientifiques Disponible Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism / Michael S. BREEN in Molecular Autism, 11 (2020)
[article]
Titre : Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism Type de document : Texte imprimé et/ou numérique Auteurs : Michael S. BREEN, Auteur ; Andrew BROWNE, Auteur ; Gabriel E. HOFFMAN, Auteur ; Sofia STATHOPOULOS, Auteur ; Kristen BRENNAND, Auteur ; Joseph D. BUXBAUM, Auteur ; Elodie DRAPEAU, Auteur Article en page(s) : 53 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Neural progenitor cells Neurons RNA-sequencing Stem cells Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is caused by 22q13.3 deletions or mutations in the SHANK3 gene. To date, the molecular and pathway changes resulting from SHANK3 haploinsufficiency in PMS remain poorly understood. Uncovering these mechanisms is critical for understanding pathobiology of PMS and, ultimately, for the development of new therapeutic interventions. METHODS: We developed human-induced pluripotent stem cell (hiPSC)-based models of PMS by reprogramming peripheral blood samples from individuals with PMS (n = 7) and their unaffected siblings (n = 6). For each participant, up to three hiPSC clones were generated and differentiated into induced neural progenitor cells (hiPSC-NPCs; n = 39) and induced forebrain neurons (hiPSC-neurons; n = 41). Genome-wide RNA-sequencing was applied to explore transcriptional differences between PMS probands and unaffected siblings. RESULTS: Transcriptome analyses identified 391 differentially expressed genes (DEGs) in hiPSC-NPCs and 82 DEGs in hiPSC-neurons, when comparing cells from PMS probands and unaffected siblings (FDR 5%). Genes under-expressed in PMS were implicated in Wnt signaling, embryonic development, and protein translation, while over-expressed genes were enriched for pre- and postsynaptic density genes, regulation of synaptic plasticity, and G-protein-gated potassium channel activity. Gene co-expression network analysis identified two modules in hiPSC-neurons that were over-expressed in PMS, implicating postsynaptic signaling and GDP binding, and both modules harbored a significant enrichment of genetic risk loci for developmental delay and intellectual disability. Finally, PMS-associated genes were integrated with other ASD hiPSC transcriptome findings and several points of convergence were identified, indicating altered Wnt signaling and extracellular matrix. LIMITATIONS: Given the rarity of the condition, we could not carry out experimental validation in independent biological samples. In addition, functional and morphological phenotypes caused by loss of SHANK3 were not characterized here. CONCLUSIONS: This is the largest human neural sample analyzed in PMS. Genome-wide RNA-sequencing in hiPSC-derived neural cells from individuals with PMS revealed both shared and distinct transcriptional signatures across hiPSC-NPCs and hiPSC-neurons, including many genes implicated in risk for ASD, as well as specific neurobiological pathways, including the Wnt pathway. En ligne : http://dx.doi.org/10.1186/s13229-020-00355-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 53 p.[article] Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism [Texte imprimé et/ou numérique] / Michael S. BREEN, Auteur ; Andrew BROWNE, Auteur ; Gabriel E. HOFFMAN, Auteur ; Sofia STATHOPOULOS, Auteur ; Kristen BRENNAND, Auteur ; Joseph D. BUXBAUM, Auteur ; Elodie DRAPEAU, Auteur . - 53 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 53 p.
Mots-clés : Autism spectrum disorder Neural progenitor cells Neurons RNA-sequencing Stem cells Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is caused by 22q13.3 deletions or mutations in the SHANK3 gene. To date, the molecular and pathway changes resulting from SHANK3 haploinsufficiency in PMS remain poorly understood. Uncovering these mechanisms is critical for understanding pathobiology of PMS and, ultimately, for the development of new therapeutic interventions. METHODS: We developed human-induced pluripotent stem cell (hiPSC)-based models of PMS by reprogramming peripheral blood samples from individuals with PMS (n = 7) and their unaffected siblings (n = 6). For each participant, up to three hiPSC clones were generated and differentiated into induced neural progenitor cells (hiPSC-NPCs; n = 39) and induced forebrain neurons (hiPSC-neurons; n = 41). Genome-wide RNA-sequencing was applied to explore transcriptional differences between PMS probands and unaffected siblings. RESULTS: Transcriptome analyses identified 391 differentially expressed genes (DEGs) in hiPSC-NPCs and 82 DEGs in hiPSC-neurons, when comparing cells from PMS probands and unaffected siblings (FDR 5%). Genes under-expressed in PMS were implicated in Wnt signaling, embryonic development, and protein translation, while over-expressed genes were enriched for pre- and postsynaptic density genes, regulation of synaptic plasticity, and G-protein-gated potassium channel activity. Gene co-expression network analysis identified two modules in hiPSC-neurons that were over-expressed in PMS, implicating postsynaptic signaling and GDP binding, and both modules harbored a significant enrichment of genetic risk loci for developmental delay and intellectual disability. Finally, PMS-associated genes were integrated with other ASD hiPSC transcriptome findings and several points of convergence were identified, indicating altered Wnt signaling and extracellular matrix. LIMITATIONS: Given the rarity of the condition, we could not carry out experimental validation in independent biological samples. In addition, functional and morphological phenotypes caused by loss of SHANK3 were not characterized here. CONCLUSIONS: This is the largest human neural sample analyzed in PMS. Genome-wide RNA-sequencing in hiPSC-derived neural cells from individuals with PMS revealed both shared and distinct transcriptional signatures across hiPSC-NPCs and hiPSC-neurons, including many genes implicated in risk for ASD, as well as specific neurobiological pathways, including the Wnt pathway. En ligne : http://dx.doi.org/10.1186/s13229-020-00355-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427 Transcriptomic changes in the frontal cortex associated with paternal age / Rebecca G. SMITH in Molecular Autism, (March 2014)
[article]
Titre : Transcriptomic changes in the frontal cortex associated with paternal age Type de document : Texte imprimé et/ou numérique Auteurs : Rebecca G. SMITH, Auteur ; Cathy FERNANDES, Auteur ; Rachel KEMBER, Auteur ; Leonard C. SCHALKWYK, Auteur ; Joseph D. BUXBAUM, Auteur ; Abraham REICHENBERG, Auteur ; Jonathan MILL, Auteur Article en page(s) : p.1-7 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Advanced paternal age is robustly associated with several human neuropsychiatric disorders, particularly autism. The precise mechanism(s) mediating the paternal age effect are not known, but they are thought to involve the accumulation of de novo (epi)genomic alterations. In this study we investigate differences in the frontal cortex transcriptome in a mouse model of advanced paternal age. En ligne : http://dx.doi.org/10.1186/2040-2392-5-24 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276
in Molecular Autism > (March 2014) . - p.1-7[article] Transcriptomic changes in the frontal cortex associated with paternal age [Texte imprimé et/ou numérique] / Rebecca G. SMITH, Auteur ; Cathy FERNANDES, Auteur ; Rachel KEMBER, Auteur ; Leonard C. SCHALKWYK, Auteur ; Joseph D. BUXBAUM, Auteur ; Abraham REICHENBERG, Auteur ; Jonathan MILL, Auteur . - p.1-7.
Langues : Anglais (eng)
in Molecular Autism > (March 2014) . - p.1-7
Index. décimale : PER Périodiques Résumé : Advanced paternal age is robustly associated with several human neuropsychiatric disorders, particularly autism. The precise mechanism(s) mediating the paternal age effect are not known, but they are thought to involve the accumulation of de novo (epi)genomic alterations. In this study we investigate differences in the frontal cortex transcriptome in a mouse model of advanced paternal age. En ligne : http://dx.doi.org/10.1186/2040-2392-5-24 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice / Neha UPPAL in Molecular Autism, (June 2015)
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