Behavioural phenoty** assays for mouse models of autism
Autism is a heterogeneous neurodevelopmental disorder of unknown aetiology that affects 1
in 100–150 individuals. Diagnosis is based on three categories of behavioural criteria …
in 100–150 individuals. Diagnosis is based on three categories of behavioural criteria …
A de novo convergence of autism genetics and molecular neuroscience
Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental
disorders with large genetic components, but identification of pathogenic genes has …
disorders with large genetic components, but identification of pathogenic genes has …
The genetic landscapes of autism spectrum disorders
G Huguet, E Ey, T Bourgeron - Annual review of genomics and …, 2013 - annualreviews.org
The autism spectrum disorders (ASD) are characterized by impairments in social interaction
and stereotyped behaviors. For the majority of individuals with ASD, the causes of the …
and stereotyped behaviors. For the majority of individuals with ASD, the causes of the …
Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Background Deletion and the reciprocal duplication in 16p11. 2 were recently associated
with autism and developmental delay. Method We indentified 27 deletions and 18 …
with autism and developmental delay. Method We indentified 27 deletions and 18 …
Cerebral cortex expansion and folding: what have we learned?
V Fernández, C Llinares‐Benadero, V Borrell - The EMBO journal, 2016 - embopress.org
One of the most prominent features of the human brain is the fabulous size of the cerebral
cortex and its intricate folding. Cortical folding takes place during embryonic development …
cortex and its intricate folding. Cortical folding takes place during embryonic development …
Kctd13 deletion reduces synaptic transmission via increased RhoA
Copy-number variants of chromosome 16 region 16p11. 2 are linked to neuropsychiatric
disorders,,,,, and are among the most prevalent in autism spectrum disorders,,. Of many …
disorders,,,,, and are among the most prevalent in autism spectrum disorders,,. Of many …
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11. 2 in individuals ascertained for diagnosis of autism spectrum …
Background Recurrent microdeletions and microduplications of∼ 555 kb at 16p11. 2 confer
susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients. No physical or …
susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients. No physical or …
Behavioral phenotypes of genetic mouse models of autism
TM Kazdoba, PT Leach… - Genes, Brain and …, 2016 - Wiley Online Library
More than a hundred de novo single gene mutations and copy‐number variants have been
implicated in autism, each occurring in a small subset of cases. Mutant mouse models with …
implicated in autism, each occurring in a small subset of cases. Mutant mouse models with …
Phenotypic variability and genetic susceptibility to genomic disorders
The duplication architecture of the human genome predisposes our species to recurrent
copy number variation and disease. Emerging data suggest that this mechanism of mutation …
copy number variation and disease. Emerging data suggest that this mechanism of mutation …
Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism
JL Silverman, DG Smith, SJS Rizzo… - Science translational …, 2012 - science.org
Neurodevelopmental disorders such as autism and fragile X syndrome were long thought to
be medically untreatable, on the assumption that brain dysfunctions were immutably …
be medically untreatable, on the assumption that brain dysfunctions were immutably …