A synaptic perspective of fragile X syndrome and autism spectrum disorders

C Bagni, RS Zukin - Neuron, 2019 - cell.com
Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS),
autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are …

Mapping and comparing fMRI connectivity networks across species

M Pagani, D Gutierrez‐Barragan… - Communications …, 2023 - nature.com
Technical advances in neuroimaging, notably in fMRI, have allowed distributed patterns of
functional connectivity to be mapped in the human brain with increasing spatiotemporal …

The microglial innate immune receptor TREM2 is required for synapse elimination and normal brain connectivity

F Filipello, R Morini, I Corradini, V Zerbi, A Canzi… - Immunity, 2018 - cell.com
The triggering receptor expressed on myeloid cells 2 (TREM2) is a microglial innate immune
receptor associated with a lethal form of early, progressive dementia, Nasu-Hakola disease …

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 …

Common functional networks in the mouse brain revealed by multi-centre resting-state fMRI analysis

J Grandjean, C Canella, C Anckaerts, G Ayrancı… - Neuroimage, 2020 - Elsevier
Preclinical applications of resting-state functional magnetic resonance imaging (rsfMRI) offer
the possibility to non-invasively probe whole-brain network dynamics and to investigate the …

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 …

Neural mechanisms underlying repetitive behaviors in rodent models of autism spectrum disorders

T Gandhi, CC Lee - Frontiers in cellular neuroscience, 2021 - frontiersin.org
Autism spectrum disorder (ASD) is comprised of several conditions characterized by
alterations in social interaction, communication, and repetitive behaviors. Genetic and …

Deletion of autism risk gene Shank3 disrupts prefrontal connectivity

M Pagani, A Bertero, A Liska, A Galbusera… - Journal of …, 2019 - Soc Neuroscience
Mutations in the synaptic scaffolding protein SHANK3 are a major cause of autism and are
associated with prominent intellectual and language deficits. However, the neural …

Endogenous noise of neocortical neurons correlates with atypical sensory response variability in the Fmr1−/y mouse model of autism

AA Bhaskaran, T Gauvrit, Y Vyas, G Bony… - Nature …, 2023 - nature.com
Excessive neural variability of sensory responses is a hallmark of atypical sensory
processing in autistic individuals with cascading effects on other core autism symptoms but …

Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice

P Suetterlin, S Hurley, C Mohan, KLH Riegman… - Cerebral …, 2018 - academic.oup.com
Truncating CHD8 mutations are amongst the highest confidence risk factors for autism
spectrum disorder (ASD) identified to date. Here, we report that Chd8 heterozygous mice …