Disease-targeted treatment translation in fragile X syndrome as a model for neurodevelopmental disorders
E Berry-Kravis - Journal of Child Neurology, 2022 - journals.sagepub.com
Fragile X syndrome (FXS), the most common monogenic cause of intellectual disability and
autism spectrum disorder, has been one of the first neurodevelopmental disorders in which …
autism spectrum disorder, has been one of the first neurodevelopmental disorders in which …
From synaptic dysfunction to atypical emotional processing in autism
SL Reis, P Monteiro - FEBS letters, 2024 - Wiley Online Library
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition mainly
characterized by social impairments and repetitive behaviors. Among these core symptoms …
characterized by social impairments and repetitive behaviors. Among these core symptoms …
Effects of AFQ056 on language learning in fragile X syndrome
E Berry-Kravis, L Abbeduto… - The Journal of …, 2024 - Am Soc Clin Investig
BACKGROUND FXLEARN, the first-ever large multisite trial of effects of disease-targeted
pharmacotherapy on learning, was designed to explore a paradigm for measuring effects of …
pharmacotherapy on learning, was designed to explore a paradigm for measuring effects of …
Cerebellar contribution to autism-relevant behaviors in fragile X syndrome models
JM Gibson, AH Vazquez, K Yamashiro, V Jakkamsetti… - Cell reports, 2023 - cell.com
Cerebellar dysfunction has been linked to autism spectrum disorders (ASDs). Although
cerebellar pathology has been observed in individuals with fragile X syndrome (FXS) and in …
cerebellar pathology has been observed in individuals with fragile X syndrome (FXS) and in …
Anandamide and 2-arachidonoylglycerol differentially modulate autistic-like traits in a genetic model of autism based on FMR1 deletion in rats
S Schiavi, A Manduca, E Carbone, V Buzzelli… - …, 2023 - nature.com
Autism spectrum disorder (ASD) has a multifactorial etiology. Major efforts are underway to
understand the neurobiological bases of ASD and to develop efficacious treatment …
understand the neurobiological bases of ASD and to develop efficacious treatment …
Axonal and presynaptic FMRP: Localization, signal, and functional implications
Fragile X mental retardation protein (FMRP) binds a selected set of mRNAs and proteins to
guide neural circuit assembly and regulate synaptic plasticity. Loss of FMRP is responsible …
guide neural circuit assembly and regulate synaptic plasticity. Loss of FMRP is responsible …
Challenges in develo** therapies in fragile X syndrome: how the FXLEARN trial can guide research
JL Neul - The Journal of Clinical Investigation, 2024 - Am Soc Clin Investig
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and the
single-gene cause of autism, is caused by decreased expression of the fragile X messenger …
single-gene cause of autism, is caused by decreased expression of the fragile X messenger …
Fragile X mental retardation protein and cerebral expression of metabotropic glutamate receptor subtype 5 in men with fragile X syndrome: a pilot study
Multiple lines of evidence suggest that a deficiency of Fragile X Mental Retardation Protein
(FMRP) mediates dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR5) in …
(FMRP) mediates dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR5) in …
Dynamic Foraging Behavior Performance Is Not Affected by Scn2a Haploinsufficiency
Dysfunction in the gene SCN2A, which encodes the voltage-gated sodium channel Nav1. 2,
is strongly associated with neurodevelopmental disorders including autism spectrum …
is strongly associated with neurodevelopmental disorders including autism spectrum …
[BOOK][B] Exploring and Exploiting Genetic Risk for Psychiatric Disorders
An edited volume that looks at the state of psychiatric genetics and how to chart a path
forward. In this edited collection, experts from psychiatric and statistical genetics …
forward. In this edited collection, experts from psychiatric and statistical genetics …