The molecular biology of FMRP: new insights into fragile X syndrome
JD Richter, X Zhao - Nature Reviews Neuroscience, 2021 - nature.com
Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation
1 gene (FMR1), a gene that—when epigenetically inactivated by a triplet nucleotide repeat …
1 gene (FMR1), a gene that—when epigenetically inactivated by a triplet nucleotide repeat …
Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome
EM Berry-Kravis, L Lindemann, AE Jønch… - Nature reviews Drug …, 2018 - nature.com
Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive
and behavioural deficits and represent a major public health burden. FXS is the most …
and behavioural deficits and represent a major public health burden. FXS is the most …
Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial
EM Berry-Kravis, MD Harnett, SA Reines, MA Reese… - Nature medicine, 2021 - nature.com
The goal of this study was to determine whether a phosphodiesterase-4D (PDE4D) allosteric
inhibitor (BPN14770) would improve cognitive function and behavioral outcomes in patients …
inhibitor (BPN14770) would improve cognitive function and behavioral outcomes in patients …
Fragile X syndrome
RJ Hagerman, E Berry-Kravis, HC Hazlett… - Nature reviews Disease …, 2017 - nature.com
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …
spectrum disorder, and patients can present with severe behavioural alterations, including …
Updated report on tools to measure outcomes of clinical trials in fragile X syndrome
DB Budimirovic, E Berry-Kravis, CA Erickson… - Journal of …, 2017 - Springer
Abstract Objective Fragile X syndrome (FXS) has been the neurodevelopmental disorder
with the most active translation of preclinical breakthroughs into clinical trials. This process …
with the most active translation of preclinical breakthroughs into clinical trials. This process …
Autism spectrum disorder and IQ–A complex interplay
Autism spectrum disorder (ASD) is characterized as a very heterogeneous child-onset
disorder, whose heterogeneity is partly determined by differences in intelligence quotient …
disorder, whose heterogeneity is partly determined by differences in intelligence quotient …
Auditory EEG biomarkers in fragile X syndrome: clinical relevance
LE Ethridge, LA De Stefano, LM Schmitt… - Frontiers in integrative …, 2019 - frontiersin.org
Sensory hypersensitivities are common and distressing features of Fragile X Syndrome
(FXS). While there are many drug interventions that reduce behavioral deficits in Fmr1 mice …
(FXS). While there are many drug interventions that reduce behavioral deficits in Fmr1 mice …
Neural synchronization deficits linked to cortical hyper-excitability and auditory hypersensitivity in fragile X syndrome
LE Ethridge, SP White, MW Mosconi, J Wang… - Molecular Autism, 2017 - Springer
Background Studies in the fmr1 KO mouse demonstrate hyper-excitability and increased
high-frequency neuronal activity in sensory cortex. These abnormalities may contribute to …
high-frequency neuronal activity in sensory cortex. These abnormalities may contribute to …
The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions
Background Recent advances in understanding molecular and synaptic mechanisms of
intellectual disabilities (ID) in fragile X syndrome (FXS) and Down syndrome (DS) through …
intellectual disabilities (ID) in fragile X syndrome (FXS) and Down syndrome (DS) through …