Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders

Genetic reduction of group 1 metabotropic glutamate receptors alters select behaviors in a mouse model for fragile X syndrome

(2011) Alexia M. Thomas et al.   BEHAVIOURAL BRAIN RESEARCH

Cognition and lobar morphology in full mutation boys with fragile X syndrome

(2011) Nagwa A. Meguid et al.   BRAIN AND COGNITION

The GABAA Receptor Agonist THIP Ameliorates Specific Behavioral Deficits in the Mouse Model of Fragile X Syndrome

(2011) Jose Luis Olmos-Serrano et al.   DEVELOPMENTAL NEUROSCIENCE

What Can We Learn about Autism from Studying Fragile X Syndrome?

(2011) Dejan B. Budimirovic et al.   DEVELOPMENTAL NEUROSCIENCE

Neural circuit architecture defects in a Drosophila model of Fragile X syndrome are alleviated by minocycline treatment and genetic removal of matrix metalloproteinase

(2011) S. S. Siller et al.   Disease Models & Mechanisms

Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis

(2011) David Neal Franz   Expert Review of Anticancer Therapy

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes

(2011) Isabel Rodríguez-Escudero et al.   HUMAN MOLECULAR GENETICS

Phosphatase and Tensin Homolog (PTEN) Gene Mutations and Autism: Literature Review and a Case Report of a Patient With Cowden Syndrome, Autistic Disorder, and Epilepsy

(2011) Sara Conti et al.   JOURNAL OF CHILD NEUROLOGY

Loss of Tsc1 In Vivo Impairs Hippocampal mGluR-LTD and Increases Excitatory Synaptic Function

(2011) H. S. Bateup et al.   JOURNAL OF NEUROSCIENCE

Altered Neocortical Rhythmic Activity States in Fmr1 KO Mice Are Due to Enhanced mGluR5 Signaling and Involve Changes in Excitatory Circuitry

(2011) S. A. Hays et al.   JOURNAL OF NEUROSCIENCE

Abnormal Presynaptic Short-Term Plasticity and Information Processing in a Mouse Model of Fragile X Syndrome

(2011) P.-Y. Deng et al.   JOURNAL OF NEUROSCIENCE

Interpreting Mammalian Target of Rapamycin and Cell Growth Inhibition in a Genetically Engineered Mouse Model of Nf1-Deficient Astrocytes

(2011) S. Banerjee et al.   MOLECULAR CANCER THERAPEUTICS

Reversible Inhibition of PSD-95 mRNA Translation by miR-125a, FMRP Phosphorylation, and mGluR Signaling

(2011) Ravi S. Muddashetty et al.   MOLECULAR CELL

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

Lovastatin as Treatment for Neurocognitive Deficits in Neurofibromatosis Type 1: Phase I Study

(2011) Maria T. Acosta et al.   PEDIATRIC NEUROLOGY

Neurofibromatosis-1 regulates mTOR-mediated astrocyte growth and glioma formation in a TSC/Rheb-independent manner

(2011) S. Banerjee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effects of intranasal oxytocin on social anxiety in males with fragile X syndrome

(2011) Scott S. Hall et al.   PSYCHONEUROENDOCRINOLOGY

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

(2011) S. Jacquemont et al.   Science Translational Medicine

Open-label add-on treatment trial of minocycline in fragile X syndrome

(2010) Carlo Paribello et al.   BMC Neurology

Open-label riluzole in fragile X syndrome

(2010) Craig A. Erickson et al.   BRAIN RESEARCH

Corpus Callosum Morphology and Its Relationship to Cognitive Function in Neurofibromatosis Type 1

(2010) Natalie Pride et al.   JOURNAL OF CHILD NEUROLOGY

Autistic Spectrum Disorder in a 9-Year-Old Girl With Macrocephaly

(2010) Martin T. Stein et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

RIM1  and Interacting Proteins Involved in Presynaptic Plasticity Mediate Prepulse Inhibition and Additional Behaviors Linked to Schizophrenia

(2010) J. Blundell et al.   JOURNAL OF NEUROSCIENCE

Dysregulation of mTOR Signaling in Fragile X Syndrome

(2010) A. Sharma et al.   JOURNAL OF NEUROSCIENCE

Aripiprazole in autism spectrum disorders and fragile X syndrome

(2010) Craig A. Erickson et al.   Neurotherapeutics

Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis

(2010) Darcy A. Krueger et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders

(2010) Dan Ehninger et al.   TRENDS IN MOLECULAR MEDICINE

Cholinergic dysfunction in fragile X syndrome and potential intervention: A preliminary1H MRS study

(2009) Shelli R. Kesler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Thalamo-Striatal T2-Weighted Hyperintensities (Unidentified Bright Objects) Correlate With Cognitive Impairments in Neurofibromatosis Type 1 During Childhood

(2009) Camille Chabernaud et al.   DEVELOPMENTAL NEUROPSYCHOLOGY

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

(2009) Elizabeth A Varga et al.   GENETICS IN MEDICINE

Deregulation of EIF4E: a novel mechanism for autism

(2009) M Neves-Pereira et al.   JOURNAL OF MEDICAL GENETICS

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome

(2009) E Berry-Kravis et al.   JOURNAL OF MEDICAL GENETICS

Increased GABAB Receptor-Mediated Signaling Reduces the Susceptibility of Fragile X Knockout Mice to Audiogenic Seizures

(2009) L. K. K. Pacey et al.   MOLECULAR PHARMACOLOGY

Forebrain neurogenesis after focal Ischemic and traumatic brain injury

(2009) Steven G. Kernie et al.   NEUROBIOLOGY OF DISEASE

mTOR signaling: At the crossroads of plasticity, memory and disease

(2009) Charles A. Hoeffer et al.   TRENDS IN NEUROSCIENCES

Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers

(2008) Delia M. Talos et al.   ANNALS OF NEUROLOGY

Recent advances in neurobiology of Tuberous Sclerosis Complex

(2008) Valerio Napolioni et al.   BRAIN & DEVELOPMENT

Plasticity and injury in the developing brain

(2008) Michael V. Johnston et al.   BRAIN & DEVELOPMENT

Self-injurious behavior and tuberous sclerosis complex: Frequency and possible associations in a population of 257 patients

(2008) Brigid A. Staley et al.   EPILEPSY & BEHAVIOR

Effect of Simvastatin on Cognitive Functioning in Children With Neurofibromatosis Type 1

(2008) Lianne C. Krab   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Open-Label Treatment Trial of Lithium to Target the Underlying Defect in Fragile X Syndrome

(2008) Elizabeth Berry-Kravis et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners

(2008) Margit Rosner et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

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

(2008) Dan Ehninger et al.   NATURE MEDICINE

Minocycline increases phosphorylation and membrane insertion of neuronal GluR1 receptors

(2008) Marta Imbesi et al.   NEUROSCIENCE LETTERS

Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities

(2007) M.M. Fraser et al.   NEUROSCIENCE