Results 51 to 60 of about 594,426 (300)

Temporal and Cell‐Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1

Advanced Science, EarlyView.
Chd1, the Drosophila homologue of mammalian CHD2 ‐ a gene linked to autism, epilepsy, and intellectual disability, is required for synaptic homeostatic plasticity. Chd1 in glia is necessary for the rapid induction of synaptic homeostasis, whereas Chd1 in motoneurons, muscle, and glia is critical for long‐term maintenance.
Danielle T. Morency, Tao Cui, Yimei Cai, Chloe Lok, Rachel E. Nokku, Ruoxian Huang, Grace L. Chu, Yumeng Xie, Saleem W. Abu‐Tayeh, Kaikai He, Chengjie Qiu, Junyi Wang, Paxton M. Paganelli, Ting Wang, Gabrielle Williams, Sreejith Nair, Huadong Pei, Dion K. Dickman, Stefano Vicini, Tingting Wang   +19 more
wiley   +1 more source

Unraveling Autism [PDF]

The American Journal of Human Genetics, 2008
In this issue of AJHG, Alarcón et al.,(1) Arking et al.,(2) and Bakkaloglu et al.(3) identify a series of functional variants in the CNTNAP2 gene that unequivocally implicate this gene as causing Type 1 autism in the general population.
openaire   +2 more sources

Paving the Way to Elucidate Hg's Role in Tumorigenesis

Advanced Science, EarlyView.
Tumorigenesis can result from diverse environmental carcinogens. Among them, mercury—a lifelong bioaccumulative Group 2B carcinogen—has tumorigenic potential that remains poorly understood due to confounding co‐exposures and limited organ‐specific data.
Shouying Li, Rong Zhong, Zhenyang Yu, Hualing Fu, Jin Chen, Jia Wei, Ningwei Zhao, Le Qu, Tiantian Li, Wenli Tang, Huan Zhong   +10 more
wiley   +1 more source

MED13L-related disorder characterized by severe motor speech impairment

Journal of Neurodevelopmental Disorders
Background MED13L-related disorder is associated with intellectual disability, motor delay, and speech deficits. Previous studies have focused on broad clinical descriptions of individuals, but limited information regarding specific speech diagnoses and ...
Marissa W. Mitchel, Stefanie Turner, Lauren K. Walsh, Rebecca I. Torene, Scott M. Myers, Cora M. Taylor   +5 more
doaj   +1 more source

A novel method for assessing the development of speech motor function in toddlers with autism spectrum disorders

Frontiers in Integrative Neuroscience, 2013
There is increasing evidence to show that indicators other than socio-cognitive abilities might predict communicative function in Autism Spectrum Disorders (ASD).
Katherine eSullivan, Megha eSharda, Jessica eGreenson, Geraldine eDawson, Nandini C Singh   +4 more
doaj   +1 more source

Change detection in children with autism: an auditory event-related fMRI study [PDF]

, 2006
Autism involves impairments in communication and social interaction, as well as high levels of repetitive, stereotypic and ritualistic behaviours, and extreme resistance to change. This latter dimension, whilst required for a diagnosis, has received less
Ashwin, C, Baron-Cohen, S, Belmonte, MK, Bernard, FA, Bullmore, ET, Davis, MH, Gomot, M   +6 more
core   +1 more source

High‐Fidelity Synthetic Data Replicates Clinical Prediction Performance in a Million‐Patient Diabetes Cohort

Advanced Science, EarlyView.
This study generates high‐fidelity synthetic longitudinal records for a million‐patient diabetes cohort, successfully replicating clinical predictive performance. However, deeper analysis reveals algorithmic biases and trajectory inconsistencies that escape standard quality metrics. These findings challenge current validation norms, demonstrating why a
Francisco Ortuño, Víctor M. de la Oliva Roque, Javier‐Ignacio Ramirez‐Lopez, David P. Kreil, Joaquín Dopazo, Carlos Loucera   +5 more
wiley   +1 more source

A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk

Nature Communications
A female protective effect has long been postulated as the primary explanation for the four-fold increase of autism spectrum disorder (ASD) diagnoses in males versus females.
Alexander S. F. Berry, Brenda M. Finucane, Scott M. Myers, Lauren K. Walsh, John M. Seibert, Christa Lese Martin, David H. Ledbetter, Matthew T. Oetjens   +7 more
doaj   +1 more source

A Review on the Cognitive Neuroscience of Autism [PDF]

, 2005
With increased recognition in the media, heightened prevalence, and advances in research technologies, investigation into the causes of autism has broadened in recent years.
Koyama, Alain
core  

Inter-rater reliability of treatment fidelity and therapeutic alliance measures for psychological therapies for anxiety in young people with autism spectrum disorders [PDF]

, 2014
Objectives: This article presents work undertaken to establish inter-rater reliability for a measure of treatment fidelity and a measure of therapeutic alliance for therapies for anxiety for young people with autism spectrum disorders. The discussion and
Brown, Rachel, Chowdhury, Uttom, Iqbal, Zeinab, Murphy, Suzanne, Press, Dee A., Reynolds, Laura, Scrivener, Louise, Shaker-Naeeni, Hadi   +7 more
core   +1 more source