Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial

Validation of the NIH Toolbox Cognitive Battery in intellectual disability

(2020) Rebecca H. Shields et al.   NEUROLOGY

Discovery, Radiolabeling, and Evaluation of Subtype-Selective Inhibitors for Positron Emission Tomography Imaging of Brain Phosphodiesterase-4D

(2020) Yuichi Wakabayashi et al.   ACS Chemical Neuroscience

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments

(2020) Dejan B. Budimirovic et al.   Brain Sciences

Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome

(2019) David Hessl et al.   PLoS One

Design and Synthesis of Selective Phosphodiesterase 4D (PDE4D) Allosteric Inhibitors for the Treatment of Fragile X Syndrome and Other Brain Disorders

(2019) Mark E. Gurney et al.   JOURNAL OF MEDICINAL CHEMISTRY

Auditory EEG Biomarkers in Fragile X Syndrome: Clinical Relevance

(2019) Lauren E. Ethridge et al.   Frontiers in Integrative Neuroscience

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome

(2018) Leonie A. Menke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PDE4D regulates Spine Plasticity and Memory in the Retrosplenial Cortex

(2018) Karsten Baumgärtel et al.   Scientific Reports

Memory enhancing effects of BPN14770, an allosteric inhibitor of phosphodiesterase-4D, in wild-type and humanized mice

(2018) Chong Zhang et al.   NEUROPSYCHOPHARMACOLOGY

Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3

(2017) Claire Briet et al.   HUMAN MOLECULAR GENETICS

Arbaclofen in fragile X syndrome: results of phase 3 trials

(2017) Elizabeth Berry-Kravis et al.   Journal of Neurodevelopmental Disorders

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

(2017) Elizabeth M. Berry-Kravis et al.   NATURE REVIEWS DRUG DISCOVERY

The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary

(2017) Catharine Riley et al.   PEDIATRICS

Fragile X syndrome

(2017) Randi J. Hagerman et al.   Nature Reviews Disease Primers

Multiple Behavior Phenotypes of the Fragile-X Syndrome Mouse Model Respond to Chronic Inhibition of Phosphodiesterase-4D (PDE4D)

(2017) Mark E. Gurney et al.   Scientific Reports

The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions

(2016) David Hessl et al.   Journal of Neurodevelopmental Disorders

Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons

(2016) F. Yi et al.   SCIENCE

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials

(2016) Elizabeth Berry-Kravis et al.   Science Translational Medicine

PDE-4 Inhibition Rescues Aberrant Synaptic Plasticity in Drosophila and Mouse Models of Fragile X Syndrome

(2015) C. H. Choi et al.   JOURNAL OF NEUROSCIENCE

Longitudinal Profiles of Adaptive Behavior in Fragile X Syndrome

(2014) C. Klaiman et al.   PEDIATRICS

Phosphodiesterase activity is regulated by CC2D1A that is implicated in non-syndromic intellectual disability

(2013) Azza Al-Tawashi et al.   Cell Communication and Signaling

Cognition assessment using the NIH Toolbox

(2013) S. Weintraub et al.   NEUROLOGY

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

(2012) Hane Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

(2012) Caroline Michot et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Novel Mutations ConfirmsPde4das a Major Gene Causing Acrodysostosis

(2012) Danielle C. Lynch et al.   HUMAN MUTATION

PRKAR1AandPDE4DMutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

(2012) Agnès Linglart et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS)

(2012) Andrew Knox et al.   Journal of Neurodevelopmental Disorders

Learning and Memory Deficits Consequent to Reduction of the Fragile X Mental Retardation Protein Result from Metabotropic Glutamate Receptor-Mediated Inhibition of cAMP Signaling in Drosophila

(2012) A. K. Kanellopoulos et al.   JOURNAL OF NEUROSCIENCE

The trouble with spines in fragile X syndrome: density, maturity and plasticity

(2012) C.X. He et al.   NEUROSCIENCE

The molecular biology of memory: cAMP, PKA, CRE, CREB-1, CREB-2, and CPEB

(2012) Eric R Kandel   Molecular Brain

Design of phosphodiesterase 4D (PDE4D) allosteric modulators for enhancing cognition with improved safety

(2009) Alex B Burgin et al.   NATURE BIOTECHNOLOGY