R-Baclofen Reverses Cognitive Deficits and Improves Social Interactions in Two Lines of 16p11.2 Deletion Mice

Arbaclofen in fragile X syndrome: results of phase 3 trials

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

Efficacy and safety of oral baclofen in the management of spasticity: A rationale for intrathecal baclofen

(2017) P Ertzgaard et al.   JOURNAL OF REHABILITATION MEDICINE

β-Arrestin2 Couples Metabotropic Glutamate Receptor 5 to Neuronal Protein Synthesis and Is a Potential Target to Treat Fragile X

(2017) Laura J. Stoppel et al.   Cell Reports

Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism

(2017) Sameer C. Dhamne et al.   Molecular Autism

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

(2016) Loyse Hippolyte et al.   BIOLOGICAL PSYCHIATRY

Perturbed proteostasis in autism spectrum disorders

(2016) Susana R. Louros et al.   JOURNAL OF NEUROCHEMISTRY

Negative Allosteric Modulation of mGluR5 Partially Corrects Pathophysiology in a Mouse Model of Rett Syndrome

(2016) Jifang Tao et al.   JOURNAL OF NEUROSCIENCE

Arbaclofen in Children and Adolescents with Autism Spectrum Disorder: A Randomized, Controlled, Phase 2 Trial

(2016) Jeremy Veenstra-VanderWeele et al.   NEUROPSYCHOPHARMACOLOGY

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

(2016) Thomas Arbogast et al.   PLoS Genetics

16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions

(2015) Mu Yang et al.   Autism Research

The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

(2015) Ellen Hanson et al.   BIOLOGICAL PSYCHIATRY

Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice

(2015) S. A. Barnes et al.   JOURNAL OF NEUROSCIENCE

The 16p11.2 Deletion Mouse Model of Autism Exhibits Altered Cortical Progenitor Proliferation and Brain Cytoarchitecture Linked to the ERK MAPK Pathway

(2015) J. Pucilowska et al.   JOURNAL OF NEUROSCIENCE

16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks

(2015) M. Yang et al.   LEARNING & MEMORY

Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion

(2015) Di Tian et al.   NATURE NEUROSCIENCE

GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of Autism

(2015) J L Silverman et al.   NEUROPSYCHOPHARMACOLOGY

The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions

(2015) Andres Moreno-De-Luca et al.   JAMA Psychiatry

Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder

(2015) Daniela Brunner et al.   PLoS One

Enhancement of Inhibitory Neurotransmission by GABA A Receptors Having α 2,3 -Subunits Ameliorates Behavioral Deficits in a Mouse Model of Autism

(2014) Sung Han et al.   NEURON

Sensory Integration in Mouse Insular Cortex Reflects GABA Circuit Maturation

(2014) Nadine Gogolla et al.   NEURON

Behavioral Abnormalities and Circuit Defects in the Basal Ganglia of a Mouse Model of 16p11.2 Deletion Syndrome

(2014) Thomas Portmann et al.   Cell Reports

Object recognition test in mice

(2013) Marianne Leger et al.   Nature Protocols

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

(2012) Flore Zufferey et al.   JOURNAL OF MEDICAL GENETICS

Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

(2012) Aubin Michalon et al.   NEURON

Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABAB Receptors with Arbaclofen

(2012) C. Henderson et al.   Science Translational Medicine

Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of Autism

(2012) J. L. Silverman et al.   Science Translational Medicine

Narrowing the critical deletion region for autism spectrum disorders on 16p11.2

(2011) An Crepel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective

(2011) Michael R. Santoro et al.   Annual Review of Pathology-Mechanisms of Disease

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

(2011) G. Horev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Common circuit defect of excitatory-inhibitory balance in mouse models of autism

(2009) Nadine Gogolla et al.   Journal of Neurodevelopmental Disorders

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

Major Vault Protein is Expressed along the Nucleus-Neurite Axis and Associates with mRNAs in Cortical Neurons

(2008) C. D. Paspalas et al.   CEREBRAL CORTEX

Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis

(2008) Dan Ehninger et al.   NATURE MEDICINE

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE