Veronica Mandelli,Ines Severino,Lisa Eyler et al.
Veronica Mandelli et al.
Background: Phenotypic heterogeneity in early language, intellectual, motor, and adaptive functioning (LIMA) features are amongst the most striking features that distinguish different types of autistic individuals. Yet th...
Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling [0.03%]
利用诱导多能干细胞和神经疾病模型鉴定SETBP1半合子不足的分子通路以改善患者诊断
Nicole C Shaw,Kevin Chen,Kathryn O Farley et al.
Nicole C Shaw et al.
Background: SETBP1 Haploinsufficiency Disorder (SETBP1-HD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild ...
Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry [0.03%]
基于国际注册表的家族数据对Phelan-McDermid 综合征进行全表型组谱分析以确定基因型与表型的关系
Rui Yin,Maxime Wack,Claire Hassen-Khodja et al.
Rui Yin et al.
Background: Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3. It is characterized by global developmenta...
Pharmacological inhibition of the CB1 cannabinoid receptor restores abnormal brain mitochondrial CB1 receptor expression and rescues bioenergetic and cognitive defects in a female mouse model of Rett syndrome [0.03%]
药理学抑制CB1大麻素受体可恢复雷特综合征雌性小鼠模型中异常脑线粒体CB1受体表达并挽救生物能量和认知缺陷
Livia Cosentino,Chiara Urbinati,Chiara Lanzillotta et al.
Livia Cosentino et al.
Background: Defective mitochondria and aberrant brain mitochondrial bioenergetics are consistent features in syndromic intellectual disability disorders, such as Rett syndrome (RTT), a rare neurologic disorder that severe...
Clara F Weber,Valeria Kebets,Oualid Benkarim et al.
Clara F Weber et al.
Objective: Autism spectrum disorder (ASD) is a neurodevelopmental condition that is associated with atypical brain network organization, with prior work suggesting differential connectivity alterations with respect to fun...
Task-based functional neural correlates of social cognition across autism and schizophrenia spectrum disorders [0.03%]
自闭症与精神分裂症谱系障碍患者的社会认知神经功能的基于任务的关联研究
Lindsay D Oliver,Iska Moxon-Emre,Colin Hawco et al.
Lindsay D Oliver et al.
Background: Autism and schizophrenia spectrum disorders (SSDs) both feature atypical social cognition. Despite evidence for comparable group-level performance in lower-level emotion processing and higher-level mentalizing...
Veronica Mandelli,Isotta Landi,Silvia Busti Ceccarelli et al.
Veronica Mandelli et al.
Background: Motor difficulties are common in many, but not all, autistic individuals. These difficulties can co-occur with other problems, such as delays in language, intellectual, and adaptive functioning. Biological mec...
Mapping neural correlates of biological motion perception in autistic children using high-density diffuse optical tomography [0.03%]
基于高密度弥散光学断层扫描的自闭症儿童生物运动感知脑功能研究
Dalin Yang,Alexandra M Svoboda,Tessa G George et al.
Dalin Yang et al.
Background: Autism spectrum disorder (ASD), a neurodevelopmental disorder defined by social communication deficits plus repetitive behaviors and restricted interests, currently affects 1/36 children in the general populat...
Association of polygenic scores for autism with volumetric MRI phenotypes in cerebellum and brainstem in adults [0.03%]
自闭症多基因得分与成人小脑和脑干体积磁共振表型的相关性研究
Salahuddin Mohammad,Mélissa Gentreau,Manon Dubol et al.
Salahuddin Mohammad et al.
Previous research on autism spectrum disorders (ASD) have showed important volumetric alterations in the cerebellum and brainstem. Most of these studies are however limited to case-control studies with small clinical samples and including m...
Spontaneous instrumental approach-avoidance learning in social contexts in autism [0.03%]
自闭症患者在社交情境中自发的乐器手段-逃避学习
Morgan Beaurenaut,Klara Kovarski,Constance Destais et al.
Morgan Beaurenaut et al.
Background: Individuals with Autism Spectrum Condition (ASC) are characterized by atypicalities in social interactions, compared to Typically Developing individuals (TD). The social motivation theory posits that these dif...