[HTML][HTML] Neurodevelopmental disorders: from genetics to functional pathways

I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …

[HTML][HTML] Genetic and epigenetic etiology underlying autism spectrum disorder

SH Yoon, J Choi, WJ Lee, JT Do - Journal of clinical medicine, 2020 - mdpi.com
Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized
by difficulties in social interaction, language development delays, repeated body …

[HTML][HTML] mTOR-related synaptic pathology causes autism spectrum disorder-associated functional hyperconnectivity

M Pagani, N Barsotti, A Bertero, S Trakoshis… - Nature …, 2021 - nature.com
Postmortem studies have revealed increased density of excitatory synapses in the brains of
individuals with autism spectrum disorder (ASD), with a putative link to aberrant mTOR …

[HTML][HTML] Infraslow state fluctuations govern spontaneous fMRI network dynamics

D Gutierrez-Barragan, MA Basson, S Panzeri, A Gozzi - Current Biology, 2019 - cell.com
Spontaneous brain activity as assessed with resting-state fMRI exhibits rich spatiotemporal
structure. However, the principles by which brain-wide patterns of spontaneous fMRI activity …

[HTML][HTML] CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories

CE Villa, C Cheroni, CP Dotter, A López-Tóbon… - Cell Reports, 2022 - cell.com
Mutations in the chromodomain helicase DNA-binding 8 (CHD8) gene are a frequent cause
of autism spectrum disorder (ASD). While its phenotypic spectrum often encompasses …

[HTML][HTML] The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective

B Mossink, M Negwer, D Schubert… - Cellular and Molecular …, 2021 - Springer
Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …

[HTML][HTML] Brain mapping across 16 autism mouse models reveals a spectrum of functional connectivity subtypes

V Zerbi, M Pagani, M Markicevic, M Matteoli… - Molecular …, 2021 - nature.com
Abstract Autism Spectrum Disorder (ASD) is characterized by substantial, yet highly
heterogeneous abnormalities in functional brain connectivity. However, the origin and …

Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice

H Jung, H Park, Y Choi, H Kang, E Lee, H Kweon… - Nature …, 2018 - nature.com
Autism spectrum disorders (ASDs) are four times more common in males than in females,
but the underlying mechanisms are poorly understood. We characterized sexually dimorphic …

Gene–environment interactions in developmental neurotoxicity: a case study of synergy between chlorpyrifos and CHD8 knockout in human brainspheres

S Modafferi, X Zhong, A Kleensang… - Environmental …, 2021 - ehp.niehs.nih.gov
Background: Autism spectrum disorder (ASD) is a major public health concern caused by
complex genetic and environmental components. Mechanisms of gene–environment (G× E) …

Network structure of the mouse brain connectome with voxel resolution

L Coletta, M Pagani, JD Whitesell, JA Harris… - Science …, 2020 - science.org
Fine-grained descriptions of brain connectivity are required to understand how neural
information is processed and relayed across spatial scales. Previous investigations of the …