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Dendritic structural plasticity and neuropsychiatric disease
The structure of neuronal circuits that subserve cognitive functions in the brain is shaped
and refined throughout development and into adulthood. Evidence from human and animal …
and refined throughout development and into adulthood. Evidence from human and animal …
Neurexins: molecular codes for sha** neuronal synapses
The function of neuronal circuits relies on the properties of individual neuronal cells and
their synapses. We propose that a substantial degree of synapse formation and function is …
their synapses. We propose that a substantial degree of synapse formation and function is …
Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities
The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual
disabilities has greatly informed our understanding of the molecular pathways critical for …
disabilities has greatly informed our understanding of the molecular pathways critical for …
A developmental and genetic classification for malformations of cortical development: update 2012
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
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 …
Transcription Factor 4 loss-of-function is associated with deficits in progenitor proliferation and cortical neuron content
Abstract Transcription Factor 4 (TCF4) has been associated with autism, schizophrenia, and
other neuropsychiatric disorders. However, how pathological TCF4 mutations affect the …
other neuropsychiatric disorders. However, how pathological TCF4 mutations affect the …
Lessons learned from additional research analyses of unsolved clinical exome cases
Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …
data exchange between clinical and scientific communities are critical to optimize molecular …
Autism genetics
AM Persico, V Napolioni - Behavioural brain research, 2013 - Elsevier
Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic
underpinnings. However, genetic contributions to autism are extremely heterogeneous, with …
underpinnings. However, genetic contributions to autism are extremely heterogeneous, with …
Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach
Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions
diagnosed solely on the basis of behavioral assessments that reveal social deficits …
diagnosed solely on the basis of behavioral assessments that reveal social deficits …