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Détail de l'auteur
Auteur F. KOOY |
Documents disponibles écrits par cet auteur (2)
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Gaps in Current Autism Research: The Thoughts of the Autism Research Editorial Board and Associate Editors / David G. AMARAL in Autism Research, 12-5 (May 2019)
[article]
Titre : Gaps in Current Autism Research: The Thoughts of the Autism Research Editorial Board and Associate Editors Type de document : Texte imprimé et/ou numérique Auteurs : David G. AMARAL, Auteur ; George M. ANDERSON, Auteur ; A. BAILEY, Auteur ; Raphael BERNIER, Auteur ; Somer L. BISHOP, Auteur ; Gene J. BLATT, Auteur ; Ricardo CANAL-BEDIA, Auteur ; Tony CHARMAN, Auteur ; G. DAWSON, Auteur ; P. J. DE VRIES, Auteur ; Emanuel DICICCO-BLOOM, Auteur ; Cheryl DISSANAYAKE, Auteur ; Y. KAMIO, Auteur ; R. KANA, Auteur ; N. Z. KHAN, Auteur ; A. KNOLL, Auteur ; F. KOOY, Auteur ; J. LAINHART, Auteur ; P. LEVITT, Auteur ; K. LOVELAND, Auteur ; N. MINSHEW, Auteur ; R. A. MUELLER, Auteur ; D. MURPHY, Auteur ; Peter C. MUNDY, Auteur ; S. PALENCIA, Auteur ; J. PINTO-MARTIN, Auteur ; A. RATTAZZI, Auteur ; S. ROGERS, Auteur ; W. L. STONE, Auteur ; S. J. WEBB, Auteur ; Andrew J. O. WHITEHOUSE, Auteur Article en page(s) : p.700-714 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.2101 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=397
in Autism Research > 12-5 (May 2019) . - p.700-714[article] Gaps in Current Autism Research: The Thoughts of the Autism Research Editorial Board and Associate Editors [Texte imprimé et/ou numérique] / David G. AMARAL, Auteur ; George M. ANDERSON, Auteur ; A. BAILEY, Auteur ; Raphael BERNIER, Auteur ; Somer L. BISHOP, Auteur ; Gene J. BLATT, Auteur ; Ricardo CANAL-BEDIA, Auteur ; Tony CHARMAN, Auteur ; G. DAWSON, Auteur ; P. J. DE VRIES, Auteur ; Emanuel DICICCO-BLOOM, Auteur ; Cheryl DISSANAYAKE, Auteur ; Y. KAMIO, Auteur ; R. KANA, Auteur ; N. Z. KHAN, Auteur ; A. KNOLL, Auteur ; F. KOOY, Auteur ; J. LAINHART, Auteur ; P. LEVITT, Auteur ; K. LOVELAND, Auteur ; N. MINSHEW, Auteur ; R. A. MUELLER, Auteur ; D. MURPHY, Auteur ; Peter C. MUNDY, Auteur ; S. PALENCIA, Auteur ; J. PINTO-MARTIN, Auteur ; A. RATTAZZI, Auteur ; S. ROGERS, Auteur ; W. L. STONE, Auteur ; S. J. WEBB, Auteur ; Andrew J. O. WHITEHOUSE, Auteur . - p.700-714.
Langues : Anglais (eng)
in Autism Research > 12-5 (May 2019) . - p.700-714
Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.2101 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=397 Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome / Robert F. BERMAN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Robert F. BERMAN, Auteur ; R. A. BUIJSEN, Auteur ; K. USDIN, Auteur ; E. PINTADO, Auteur ; F. KOOY, Auteur ; D. PRETTO, Auteur ; I. N. PESSAH, Auteur ; D. L. NELSON, Auteur ; Z. ZALEWSKI, Auteur ; N. CHARLET-BERGEURAND, Auteur ; R. WILLEMSEN, Auteur ; R. K. HUKEMA, Auteur Article en page(s) : p.25 Langues : Anglais (eng) Mots-clés : CGG trinucleotide repeat Fmr1 Fmrp Fxtas Fragile X premutation Intranuclear inclusions Mouse models RNA toxicity Index. décimale : PER Périodiques Résumé : Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5'-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Carriers were once thought to be without symptoms, but it is now recognized that they can develop a variety of early neurological symptoms as well as being at risk for developing the late onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Several mouse models have contributed to our understanding of FPM and FXTAS, and findings from studies using these models are summarized here. This review also discusses how this information is improving our understanding of the molecular and cellular abnormalities that contribute to neurobehavioral features seen in some FPM carriers and in patients with FXTAS. Mouse models show much of the pathology seen in FPM carriers and in individuals with FXTAS, including the presence of elevated levels of Fmr1 mRNA, decreased levels of fragile X mental retardation protein, and ubiquitin-positive intranuclear inclusions. Abnormalities in dendritic spine morphology in several brain regions are associated with neurocognitive deficits in spatial and temporal memory processes, impaired motor performance, and altered anxiety. In vitro studies have identified altered dendritic and synaptic architecture associated with abnormal Ca(2+) dynamics and electrical network activity. FPM mice have been particularly useful in understanding the roles of Fmr1 mRNA, fragile X mental retardation protein, and translation of a potentially toxic polyglycine peptide in pathology. Finally, the potential for using these and emerging mouse models for preclinical development of therapies to improve neurological function in FXTAS is considered. En ligne : http://dx.doi.org/10.1186/1866-1955-6-25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.25[article] Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome [Texte imprimé et/ou numérique] / Robert F. BERMAN, Auteur ; R. A. BUIJSEN, Auteur ; K. USDIN, Auteur ; E. PINTADO, Auteur ; F. KOOY, Auteur ; D. PRETTO, Auteur ; I. N. PESSAH, Auteur ; D. L. NELSON, Auteur ; Z. ZALEWSKI, Auteur ; N. CHARLET-BERGEURAND, Auteur ; R. WILLEMSEN, Auteur ; R. K. HUKEMA, Auteur . - p.25.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.25
Mots-clés : CGG trinucleotide repeat Fmr1 Fmrp Fxtas Fragile X premutation Intranuclear inclusions Mouse models RNA toxicity Index. décimale : PER Périodiques Résumé : Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5'-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Carriers were once thought to be without symptoms, but it is now recognized that they can develop a variety of early neurological symptoms as well as being at risk for developing the late onset neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS). Several mouse models have contributed to our understanding of FPM and FXTAS, and findings from studies using these models are summarized here. This review also discusses how this information is improving our understanding of the molecular and cellular abnormalities that contribute to neurobehavioral features seen in some FPM carriers and in patients with FXTAS. Mouse models show much of the pathology seen in FPM carriers and in individuals with FXTAS, including the presence of elevated levels of Fmr1 mRNA, decreased levels of fragile X mental retardation protein, and ubiquitin-positive intranuclear inclusions. Abnormalities in dendritic spine morphology in several brain regions are associated with neurocognitive deficits in spatial and temporal memory processes, impaired motor performance, and altered anxiety. In vitro studies have identified altered dendritic and synaptic architecture associated with abnormal Ca(2+) dynamics and electrical network activity. FPM mice have been particularly useful in understanding the roles of Fmr1 mRNA, fragile X mental retardation protein, and translation of a potentially toxic polyglycine peptide in pathology. Finally, the potential for using these and emerging mouse models for preclinical development of therapies to improve neurological function in FXTAS is considered. En ligne : http://dx.doi.org/10.1186/1866-1955-6-25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346