Results 61 to 70 of about 43,167 (288)

Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression

Nature Communications, 2016
BRAG1 mutations are linked to synaptic deficits and X-chromosome linked intellectual disability. Here, the authors show that BRAG1 mediates activity-dependent removal of synaptic AMPA receptors via Arf-GEF activity and PDZ interactions, and is required ...
Joshua C. Brown, Amber Petersen, Ling Zhong, Miranda L. Himelright, Jessica A. Murphy, Randall S. Walikonis, Nashaat Z. Gerges   +6 more
doaj   +1 more source

The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity [PDF]

The Journal of Neuroscience, 2017
Mutations and deletions of the interleukin-1 receptor accessory protein like 1 (IL1RAPL1) gene, located on the X chromosome, are associated with intellectual disability (ID) and autism spectrum disorder (ASD). IL1RAPL1 protein is located at the postsynaptic compartment of excitatory synapses and plays a role in synapse formation and stabilization. Here,
Caterina Montani, Mariana Ramos-Brossier, Luisa Ponzoni, Laura Gritti, Andrzej W. Cwetsch, Daniela Braida, Yoann Saillour, Benedetta Terragni, Massimo Mantegazza, Mariaelvina Sala, Chiara Verpelli, Pierre Billuart, Carlo Sala   +12 more
openaire   +3 more sources

Ageing with an intellectual disability in rural areas

, 2013
Aim: In recent years, a combination of factors have seen life expectancies for people with intellectual disabilities increase dramatically. While this improvement is naturally a very desirable outcome, there are limited policy frameworks and little ...
Edwards, Helen, Wark, Stuart, Hussain, Rafat   +2 more
core   +1 more source

Interpersonal sources of conflict in young people with and without mild to moderate intellectual disabilities at transition from adolescence to adulthood [PDF]

, 2011
<p><b>Background:</b> Interpersonal conflict is a source of stress and contributes to poor mental health in people with mild to moderate intellectual disabilities. Understanding the contexts in which conflict typically occurs can better
MacMahon, K., A. Jahoda, K. MacMahon, Pert, C., C. Pert, P. Larkin, Jahoda, A., Larkin, P.   +7 more
core   +1 more source

Multimodal Human–Robot Interaction Using Human Pose Estimation and Local Large Language Models

Advanced Robotics Research, EarlyView.
A multimodal human–robot interaction framework integrates human pose estimation (HPE) and a large language model (LLM) for gesture‐ and voice‐based robot control. Speech‐to‐text (STT) enables voice command interpretation, while a safety‐aware arbitration mechanism prioritizes gesture input for rapid intervention.
Nasiru Aboki, Ilche Georgievski, Marco Aiello   +2 more
wiley   +1 more source

PAK3 pathogenic variant associated with sleep‐related hypermotor epilepsy in a family with parental mosaicism

Epilepsia Open
Protein‐activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21‐activated kinases (PAKs) family of Ras‐signaling serine/threonine kinases.
Antonio Gambardella, Yu‐Chi Liu, Mark F. Bennett, Timothy E. Green, John A. Damiano, Francesco Fortunato, Matthew J. Coleman, Jacqueline Cherfils, Jean‐Vianney Barnier, Jozef Gecz, Melanie Bahlo, Samuel F. Berkovic, Michael S. Hildebrand   +12 more
doaj   +1 more source

Cross‐Scale Hierarchical Targeted Delivery System Based on Small‐Scale Magnetic Robots

Advanced Robotics Research, EarlyView.
This article reviews a cross‐scale hierarchical targeted delivery system that integrates magnetic continuum robots and magnetic microrobots. By combining rapid long‐range navigation with precise microscale targeting, the system overcomes key limitations of single‐scale approaches.
Junjian Zhou, Zhiqiang Chen, Yuanbiao Ma, Zhiqiang Tang, Qianqian Wang   +4 more
wiley   +1 more source

The use of IQ and descriptions of people with intellectual disabilities in the scientific literature [PDF]

, 2011
A necessary though not sufficient part of most internationally recognised definitions of Intellectual Disability (ID) is having a measured intellectual quotient (IQ) less than a critical figure, usually 70, for example the American Association on ...
Whitaker, Simon, Laird, C.
core  

How Adults With an Intellectual Disability Experience Bereavement and Grief: A Qualitative Exploration

, 2014
This qualitative study explored the lived experiences of bereavement of 13 adults with an intellectual disability and found that their experiences could be situated within the concept of disenfranchised grief.
Quayle, Ethel; id_orcid, Neumann, Katja, McRitchie, Robyn, McKenzie, Karen, Quayle, Ethel, Harlin, Margaret   +5 more
core   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source