Advancing the understanding of autism disease mechanisms through genetics

L de la Torre-Ubieta, H Won, JL Stein… - Nature medicine, 2016 - nature.com
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …

Zebrafish as an emerging model for studying complex brain disorders

AV Kalueff, AM Stewart, R Gerlai - Trends in pharmacological sciences, 2014 - cell.com
The zebrafish (Danio rerio) is rapidly becoming a popular model organism in
pharmacogenetics and neuropharmacology. Both larval and adult zebrafish are currently …

Zebrafish models for translational neuroscience research: from tank to bedside

AM Stewart, O Braubach, J Spitsbergen, R Gerlai… - Trends in …, 2014 - cell.com
The zebrafish (Danio rerio) is emerging as a new important species for studying
mechanisms of brain function and dysfunction. Focusing on selected central nervous system …

Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis

C Richards, C Jones, L Groves, J Moss… - The Lancet …, 2015 - thelancet.com
Background Autism spectrum disorder (ASD) phenomenology is reported to be more
common in individuals with some genetic syndromes than in the general population; …

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials

E Berry-Kravis, V Des Portes, R Hagerman… - Science translational …, 2016 - science.org
Fragile X syndrome (FXS), the most common cause of inherited intellectual disability and
autistic spectrum disorder, is typically caused by transcriptional silencing of the X-linked …

[HTML][HTML] Autism spectrum disorders and neuropathology of the cerebellum

DR Hampson, GJ Blatt - Frontiers in neuroscience, 2015 - frontiersin.org
The cerebellum contains the largest number of neurons and synapses of any structure in the
central nervous system. The concept that the cerebellum is solely involved in fine motor …

Comorbidity of intellectual disability confounds ascertainment of autism: implications for genetic diagnosis

A Polyak, RM Kubina, S Girirajan - American Journal of Medical …, 2015 - Wiley Online Library
While recent studies suggest a converging role for genetic factors towards risk for
nosologically distinct disorders including autism, intellectual disability (ID), and epilepsy …

Candidate biomarkers in children with autism spectrum disorder: a review of MRI studies

D Li, HO Karnath, X Xu - Neuroscience bulletin, 2017 - Springer
Searching for effective biomarkers is one of the most challenging tasks in the research field
of Autism Spectrum Disorder (ASD). Magnetic resonance imaging (MRI) provides a non …

Biomarkers in autism spectrum disorder: the old and the new

B Ruggeri, U Sarkans, G Schumann, AM Persico - Psychopharmacology, 2014 - Springer
Rationale Autism spectrum disorder (ASD) is a complex heterogeneous
neurodevelopmental disorder with onset during early childhood and typically a life-long …

[HTML][HTML] Modulation of GABAergic transmission in development and neurodevelopmental disorders: investigating physiology and pathology to gain therapeutic …

G Deidda, IF Bozarth, L Cancedda - Frontiers in cellular neuroscience, 2014 - frontiersin.org
During mammalian ontogenesis, the neurotransmitter GABA is a fundamental regulator of
neuronal networks. In neuronal development, GABAergic signaling regulates neural …