Treatment effects of stimulant medication in young boys with fragile X syndrome [0.03%]
注意缺陷多动障碍的患儿服用兴奋剂的效果研究——脆性X染色体综合症男孩样本报告
Jane E Roberts,Margot Miranda,Maria Boccia et al.
Jane E Roberts et al.
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and is caused by a CGG repeat expansion at Xq27.3 on the FMR1 gene. The majority of young boys with FXS display poor attention and hyperactivity that is d...
Inna Fishman,Anna Yam,Ursula Bellugi et al.
Inna Fishman et al.
One of the most compelling features of Williams syndrome (WS) is the widely reported excessive sociability, accompanied by a relative proficiency in expressive language, which stands in stark contrast with significant intellectual and nonve...
FMR1 premutation and full mutation molecular mechanisms related to autism [0.03%]
与自闭症相关的FMR1轻度突变和完全突变的分子机制
Randi Hagerman,Jacky Au,Paul Hagerman
Randi Hagerman
Fragile X syndrome (FXS) is caused by an expanded CGG repeat (>200 repeats) in the 5' un-translated portion of the fragile X mental retardation 1 gene (FMR1) leading to a deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA-bind...
Deficient NRG1-ERBB signaling alters social approach: relevance to genetic mouse models of schizophrenia [0.03%]
NRG1-ERBB信号通路缺陷改变社交行为：与精神分裂症遗传鼠模型的相关性研究
Sheryl S Moy,H Troy Ghashghaei,Randal J Nonneman et al.
Sheryl S Moy et al.
Growth factor Neuregulin 1 (NRG1) plays an essential role in development and organization of the cerebral cortex. NRG1 and its receptors, ERBB3 and ERBB4, have been implicated in genetic susceptibility for schizophrenia. Disease symptoms in...
Novel copy number variants in children with autism and additional developmental anomalies [0.03%]
具有自闭症和其他发育异常的儿童中新发现的拷贝数变异
L K Davis,K J Meyer,D S Rudd et al.
L K Davis et al.
Autism is a neurodevelopmental disorder characterized by three core symptom domains: ritualistic-repetitive behaviors, impaired social interaction, and impaired communication and language development. Recent studies have highlighted etiolog...
Autistic behavior in boys with fragile X syndrome: social approach and HPA-axis dysfunction [0.03%]
脆性X综合征男孩的自闭症行为：社会交往和HPA轴功能障碍
Jane E Roberts,Megan A Clarke,Kaitlyn Alcorn et al.
Jane E Roberts et al.
The primary goal of this study was to examine environmental and neuroendocrine factors that convey increased risk for elevated autistic behavior in boys with Fragile X syndrome (FXS). This study involves three related analyses: (1) examinat...
Choline transporter gene variation is associated with attention-deficit hyperactivity disorder [0.03%]
胆碱转运蛋白基因多态性与注意缺陷多动障碍相关
Brett A English,Maureen K Hahn,Ian R Gizer et al.
Brett A English et al.
The neurotransmitter acetylcholine (ACh) plays a critical role in brain circuits mediating motor control, attention, learning and memory. Cholinergic dysfunction is associated with multiple brain disorders including Alzheimer's Disease, add...
Developmental learning impairments in a rodent model of nodular heterotopia [0.03%]
结节异位小鼠模型中的发育性学习障碍
Steven W Threlkeld,Courtney A Hill,Caitlin E Cleary et al.
Steven W Threlkeld et al.
Developmental malformations of neocortex-including microgyria, ectopias, and periventricular nodular heterotopia (PNH)-have been associated with language learning impairments in humans. Studies also show that developmental language impairme...
A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder [0.03%]
脑源性神经营养因子基因的功能多态性与自闭症光谱系的皮层解剖结构相关性研究
Armin Raznahan,Roberto Toro,Petra Proitsi et al.
Armin Raznahan et al.
Autism Spectrum Disorder (ASD) is associated with both (i) post-mortem and neuroimaging evidence of abnormal cortical development, and (ii) altered signalling in Brain Derived Neurotrophic Factor (BDNF) pathways - which regulate neuroprolif...