Ingrid D C van Balkom,Michaeline Bresnahan,Marrit F Vogtländer et al.
Ingrid D C van Balkom et al.
To study autism outside of a narrow range of settings previously studied, and in a particularly distinctive setting in the Caribbean. The aim of the Aruba Autism Project was to determine the prevalence of autism spectrum disorders (ASDs) in...
Cover essay [0.03%]
封面论文
Patricia Leighten
Patricia Leighten
Kevin C Ess
Kevin C Ess
Tuberous Sclerosis Complex (TSC) is a multiorgan genetic disease caused by loss of function of either the TSC1 (encodes hamartin) or TSC2 (encodes tuberin) genes. Patients with TSC have benign tumors (hamartomas) in multiple organs though b...
Fragile x syndrome and autism: from disease model to therapeutic targets [0.03%]
脆性X综合征和自闭症：从疾病模型到治疗靶点
Gül Dölen,Mark F Bear
Gül Dölen
Autism is an umbrella diagnosis with several different etiologies. Fragile X syndrome (FXS), one of the first identified and leading causes of autism, has been modeled in mice using molecular genetic manipulation. These Fmr1 knockout mice h...
Mark Lewis,Soo-Jeong Kim
Mark Lewis
Restricted, repetitive behaviors (RRBs) are heterogeneous ranging from stereotypic body movements to rituals to restricted interests. RRBs are most strongly associated with autism but occur in a number of other clinical disorders as well as...
Patrick F Bolton
Patrick F Bolton
Autism spectrum disorder (ASD) is a behaviourally defined syndrome where the etiology and pathophysiology is only partially understood. In a small proportion of children with the condition, a specific medical disorder is identified, but the...
Cover essay [0.03%]
封面论文
Mark Antliff
Mark Antliff
Is theory of mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)? [0.03%]
22q11.2缺失综合征（ velocardiofacial 综合征）的理论思想是否与社会功能障碍和情绪问题相关？
Linda E Campbell,Angela F Stevens,Kathryn McCabe et al.
Linda E Campbell et al.
Social dysfunction is intrinsically involved in severe psychiatric disorders such as depression and psychosis and linked with poor theory of mind. Children with 22q11.2 deletion syndrome (22q11DS, or velo-cardio-facial syndrome) have poor s...
Nathan D Okerlund,Benjamin N R Cheyette
Nathan D Okerlund
Wnt signaling is a key pathway that helps organize development of the nervous system. It influences cell proliferation, cell fate, and cell migration in the developing nervous system, as well as axon guidance, dendrite development, and syna...
A new synaptic player leading to autism risk: Met receptor tyrosine kinase [0.03%]
一种新的自闭症易感突触玩家：Met受体酪氨酸激酶
Matthew C Judson,Kathie L Eagleson,Pat Levitt
Matthew C Judson
The validity for assigning disorder risk to an autism spectrum disorder (ASD) candidate gene comes from convergent genetic, clinical, and developmental neurobiology data. Here, we review these lines of evidence from multiple human genetic s...