EEG as a translational biomarker and outcome measure in fragile X syndrome
A Kenny, D Wright, AC Stanfield - Translational Psychiatry, 2022 - nature.com
Targeted treatments for fragile X syndrome (FXS) have frequently failed to show efficacy in
clinical testing, despite success at the preclinical stages. This has highlighted the need for …
clinical testing, despite success at the preclinical stages. This has highlighted the need for …
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 …
Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study
Background Rett syndrome (RS) is a rare neurodevelopmental disorder characterized by
mutations in the MECP2 gene. Patients with RS have severe motor abnormalities and are …
mutations in the MECP2 gene. Patients with RS have severe motor abnormalities and are …
Comparison of evoked potentials across four related developmental encephalopathies
Background Develo** biomarkers is a priority for drug development for all conditions, but
vital in the rare neurodevelopmental disorders where sensitive outcome measures are …
vital in the rare neurodevelopmental disorders where sensitive outcome measures are …
Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked …
Background We interrogated auditory sensory memory capabilities in individuals with CLN3
disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of “duration” …
disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of “duration” …
Probing a neural unreliability account of auditory sensory processing atypicalities in Rett Syndrome
Background In the search for objective tools to quantify neural function in Rett Syndrome
(RTT), which are crucial in the evaluation of therapeutic efficacy in clinical trials, recordings …
(RTT), which are crucial in the evaluation of therapeutic efficacy in clinical trials, recordings …
Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)
Background Cystinosis, a rare lysosomal storage disease, is characterized by cystine
crystallization and accumulation within tissues and organs, including the kidneys and brain …
crystallization and accumulation within tissues and organs, including the kidneys and brain …
Neural markers of auditory response and habituation in phelan-mcdermid syndrome
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 …
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease
LD Morison, IT Whiteman, AP Vogel… - Journal of Inherited …, 2025 - Wiley Online Library
ABSTRACT CLN2 and CLN3 diseases, the most common types of Batten disease (also
known as neuronal ceroid lipofuscinosis), are childhood dementias associated with …
known as neuronal ceroid lipofuscinosis), are childhood dementias associated with …
[HTML][HTML] Potentiation of the muscarinic acetylcholine receptor 1 modulates neurophysiological features in a mouse model of Rett syndrome
HW Dong, K Weiss, K Baugh, MJ Meadows… - …, 2024 - Elsevier
Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the
X chromosome-linked gene Methyl-CpG Binding Protein 2 (MECP2). Restoring MeCP2 …
X chromosome-linked gene Methyl-CpG Binding Protein 2 (MECP2). Restoring MeCP2 …