Bridging the translational gap: what can synaptopathies tell us about autism?

CJ Molloy, J Cooke, NJF Gatford… - Frontiers in Molecular …, 2023 - frontiersin.org
Multiple molecular pathways and cellular processes have been implicated in the
neurobiology of autism and other neurodevelopmental conditions. There is a current focus …

Electrophysiological and behavioral evidence for hyper-and hyposensitivity in rare genetic syndromes associated with autism

A Neklyudova, K Smirnov, A Rebreikina, O Martynova… - Genes, 2022 - mdpi.com
Our study reviewed abnormalities in spontaneous, as well as event-related, brain activity in
syndromes with a known genetic underpinning that are associated with autistic …

Haploinsufficiency of Shank3 increases the orientation selectivity of V1 neurons

CA Ortiz-Cruz, EJ Marquez, CI Linares-García… - Scientific Reports, 2022 - nature.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder whose hallmarks are
social deficits, language impairment, repetitive behaviors, and sensory alterations. It has …

Neural markers of auditory response and habituation in phelan-mcdermid syndrome

EL Isenstein, HE Grosman, SB Guillory… - Frontiers in …, 2022 - frontiersin.org
Phelan-McDermid Syndrome (PMS) is a rare genetic disorder caused by deletion or
sequence variation in the SHANK3 gene at terminal chromosome 22 that confers high …

Objective frequency analysis of transient visual evoked potentials in autistic children

C Brittenham, J Gordon, VM Zemon… - Autism Research, 2022 - Wiley Online Library
Visual evoked potentials (VEPs) provide a means to examine neural mechanisms in autism
with high temporal resolution. Conventional VEP analysis relies on subjective inspection of …

[HTML][HTML] The maturation of infant and toddler visual cortex neural activity and associations with fine motor performance

K Otten, JC Edgar, HL Green, K Mol… - Developmental …, 2024 - Elsevier
Our understanding of how visual cortex neural processes mature during infancy and
toddlerhood is limited. Using magnetoencephalography (MEG), the present study …

An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome

T Levy, JL Holder, JP Horrigan, MF Snape… - Human Genetics and …, 2024 - cell.com
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by
haploinsufficiency of the SHANK3 gene. Approximately 25% of individuals with PMS have …

Neurophysiological markers that link genes and behavior in humans: examples from rare genetic syndromes associated with autism spectrum disorders

OV Sysoeva - Genes & Cells, 2023 - genescells.ru
Rare genetic syndromes associated with autism spectrum disorders have several
noninvasive neurophysiological markers that can be linked with molecular genetic …

Objective frequency analysis of transient visual evoked potentials in activity dependent neuroprotective protein (adnp) syndrome

N Benrey - 2023 - search.proquest.com
Objective Frequency Analysis of Transient Visual Evoked Potentials in Activity Dependent
Neuroprotective Protein (ADNP) Syndrome Abstract Time-and frequency-domain measures …

A Genetics-First Approach to the Identification of Behavioral and Neural Correlates of Sensory Processing in Autism Spectrum Disorder

S Lurie - 2020 - repository.yu.edu
Introduction: Single-locus forms of autism spectrum disorder (ASD) offer opportunities to
explore gene-specific neural and behavioral responses. The current study evaluates Phelan …