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 …
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
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 …
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 …
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 …
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 …
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
Our understanding of how visual cortex neural processes mature during infancy and
toddlerhood is limited. Using magnetoencephalography (MEG), the present study …
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 …
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 …
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 …
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 …
explore gene-specific neural and behavioral responses. The current study evaluates Phelan …