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in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Genetics of X-Linked Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Charles E. SCHWARTZ, Auteur ; Luigi BOCCUTO, Auteur Année de publication : 2016 Importance : p.25-41 Langues : Anglais (eng) Mots-clés : Disease mechanisms Nonsyndromal XLID Syndromal XLID X-linked intellectual disability Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Intellectual disability (ID) represents a heterogeneous disorder affecting the development, function, and/or structure of the central nervous system. ID affects about 2–3% of the general population, with a male excess estimated around 30%. Genetic defects on the X chromosome are supposed to have a major role in this gender bias. X-linked intellectual disability (XLID) can be grouped into two categories, syndromal and nonsyndromal, although some genes can be responsible for both forms. In the past 2 decades, important progress has been made in identifying new causative genes and understanding the disease mechanisms underlying over 100 XLID conditions. Most known genes involve one of the following functional groups: presynaptic vesicle cycling and transport, cytoskeletal dynamics, cell adhesion and transsynaptic signaling, and translational regulation. Expanding knowledge of XLID also allows researchers to design new therapeutic approaches. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00003-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Genetics of X-Linked Intellectual Disability [Texte imprimé et/ou numérique] / Charles E. SCHWARTZ, Auteur ; Luigi BOCCUTO, Auteur . - 2016 . - p.25-41.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Disease mechanisms Nonsyndromal XLID Syndromal XLID X-linked intellectual disability Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Intellectual disability (ID) represents a heterogeneous disorder affecting the development, function, and/or structure of the central nervous system. ID affects about 2–3% of the general population, with a male excess estimated around 30%. Genetic defects on the X chromosome are supposed to have a major role in this gender bias. X-linked intellectual disability (XLID) can be grouped into two categories, syndromal and nonsyndromal, although some genes can be responsible for both forms. In the past 2 decades, important progress has been made in identifying new causative genes and understanding the disease mechanisms underlying over 100 XLID conditions. Most known genes involve one of the following functional groups: presynaptic vesicle cycling and transport, cytoskeletal dynamics, cell adhesion and transsynaptic signaling, and translational regulation. Expanding knowledge of XLID also allows researchers to design new therapeutic approaches. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00003-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
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