Related references
Note: Only part of the references are listed.New perspectives on the biology of fragile X syndrome
Tao Wang et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2012)
Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model
S. M. Goebel-Goody et al.
GENES BRAIN AND BEHAVIOR (2012)
Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome
C. A. Hoeffer et al.
GENES BRAIN AND BEHAVIOR (2012)
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
Carolyn M. Yrigollen et al.
GENETICS IN MEDICINE (2012)
NMDA receptor hypofunction in the dentate gyrus and impaired context discrimination in adult Fmr1 knockout mice
Brennan D. Eadie et al.
HIPPOCAMPUS (2012)
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder
Weerasak Chonchaiya et al.
HUMAN GENETICS (2012)
Dephosphorylation-Induced Ubiquitination and Degradation of FMRP in Dendrites: A Role in Immediate Early mGluR-Stimulated Translation
Vijayalaxmi C. Nalavadi et al.
JOURNAL OF NEUROSCIENCE (2012)
Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice
Aubin Michalon et al.
NEURON (2012)
BC1-FMRP interaction is modulated by 2′-O-methylation: RNA-binding activity of the tudor domain and translational regulation at synapses
Caroline Lacoux et al.
NUCLEIC ACIDS RESEARCH (2012)
Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial
Elizabeth M. Berry-Kravis et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Claire S. Leblond et al.
PLOS GENETICS (2012)
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Jennifer C. Darnell et al.
CELL (2011)
Fragile X syndrome: lifespan developmental implications for those without as well as with intellectual disability
Jeremy Turk
CURRENT OPINION IN PSYCHIATRY (2011)
Heads-Up: New Roles for the Fragile X Mental Retardation Protein in Neural Stem and Progenitor Cells
Matthew A. Callan et al.
GENESIS (2011)
Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization
Lisa Cordeiro et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2011)
FMR1 premutation and full mutation molecular mechanisms related to autism
Randi Hagerman et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2011)
Fragile X Mice: Reduced Long-Term Potentiation and N-Methyl-D-Aspartate Receptor-Mediated Neurotransmission in Dentate Gyrus
Sung Hwan Yun et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2011)
Mutations causing syndromic autism define an axis of synaptic pathophysiology
Benjamin D. Auerbach et al.
NATURE (2011)
BDNF and TrkB in neuronal differentiation of Fmr1-knockout mouse
Verna Louhivuori et al.
NEUROBIOLOGY OF DISEASE (2011)
Reversal of Fragile X Phenotypes by Manipulation of AβPP/Aβ Levels in Fmr1KO Mice
Cara J. Westmark et al.
PLOS ONE (2011)
Early continuous inhibition of group 1 mGlu signaling partially rescues dendritic spine abnormalities in the Fmr1 knockout mouse model for fragile X syndrome
Tao Su et al.
PSYCHOPHARMACOLOGY (2011)
Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056
Sebastien Jacquemont et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Open-label add-on treatment trial of minocycline in fragile X syndrome
Carlo Paribello et al.
BMC NEUROLOGY (2010)
Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome
David E. Godler et al.
GENETICS IN MEDICINE (2010)
Commentary on population screening for fragile X syndrome
Bradford Coffee
GENETICS IN MEDICINE (2010)
Advances in understanding the molecular basis of FXTAS
Dolores Garcia-Arocena et al.
HUMAN MOLECULAR GENETICS (2010)
A Simple, High-Throughput Assay for Fragile X Expanded Alleles Using Triple Repeat Primed PCR and Capillary Electrophoresis
Elaine Lyon et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2010)
Dysregulation of mTOR Signaling in Fragile X Syndrome
Ali Sharma et al.
JOURNAL OF NEUROSCIENCE (2010)
Defective GABAergic Neurotransmission and Pharmacological Rescue of Neuronal Hyperexcitability in the Amygdala in a Mouse Model of Fragile X Syndrome
Jose Luis Olmos-Serrano et al.
JOURNAL OF NEUROSCIENCE (2010)
Randomized, Controlled Trial of an Intervention for Toddlers With Autism: The Early Start Denver Model
Geraldine Dawson et al.
PEDIATRICS (2010)
Characterization and reversal of synaptic defects in the amygdala in a mouse model of fragile X syndrome
Aparna Suvrathan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses
M. Xuncla et al.
REPRODUCTIVE BIOMEDICINE ONLINE (2010)
Brief Report: Acamprosate in Fragile X Syndrome
Craig A. Erickson et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2010)
Side Effects of Minocycline Treatment in Patients With Fragile X Syndrome and Exploration of Outcome Measures
Agustini Utari et al.
AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES (2010)
Autism Spectrum Disorder in Children and Adolescents With Fragile X Syndrome: Within-Syndrome Differences and Age-Related Changes
Andrea McDuffie et al.
AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES (2010)
A Distinct DNA-Methylation Boundary in the 5′- Upstream Sequence of the FMR1 Promoter Binds Nuclear Proteins and Is Lost in Fragile X Syndrome
Anja Naumann et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA
Bradford Coffee et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Downregulation of Tonic GABAergic Inhibition in a Mouse Model of Fragile X Syndrome
Giulia Curia et al.
CEREBRAL CORTEX (2009)
Deregulation of EIF4E: a novel mechanism for autism
M. Neves-Pereira et al.
JOURNAL OF MEDICAL GENETICS (2009)
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
E. Berry-Kravis et al.
JOURNAL OF MEDICAL GENETICS (2009)
Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations
Isabel Fernandez-Carvajal et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2009)
Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population
Isabel Fernandez-Carvajal et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2009)
Fragile X mental retardation protein is required for chemically-induced long-term potentiation of the hippocampus in adult mice
Yuze Shang et al.
JOURNAL OF NEUROCHEMISTRY (2009)
Increased GABAB Receptor-Mediated Signaling Reduces the Susceptibility of Fragile X Knockout Mice to Audiogenic Seizures
Laura K. K. Pacey et al.
MOLECULAR PHARMACOLOGY (2009)
Elevated glycogen synthase kinase-3 activity in Fragile X mice: Key metabolic regulator with evidence for treatment potential
Wenzhong William Min et al.
NEUROPHARMACOLOGY (2009)
No Change in the Age of Diagnosis for Fragile X Syndrome: Findings From a National Parent Survey
Donald B. Bailey et al.
PEDIATRICS (2009)
Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model
T. V. Bilousova et al.
JOURNAL OF MEDICAL GENETICS (2009)
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder
Catalina Garcia-Nonell et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Abnormal striatal GABA transmission in the mouse model for the fragile X syndrome
Diego Centonze et al.
BIOLOGICAL PSYCHIATRY (2008)
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP
Ilaria Napoli et al.
CELL (2008)
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations
Elisabetta Tabolacci et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade
Usha Narayanan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome
Elizabeth Berry-Kravis et al.
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS (2008)
A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile x (FMR1) gene in newborn and high-risk populations
Flora Tassone et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2008)
Minocycline increases phosphorylation and membrane insertion of neuronal GluR1 receptors
Marta Imbesi et al.
NEUROSCIENCE LETTERS (2008)
Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation
Elisabetta Tabolacci et al.
PHARMACOGENETICS AND GENOMICS (2008)
Aberrant early-phase ERK inactivation impedes neuronal function in fragile X syndrome
Soong Ho Kim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2A
Usha Narayanan et al.
JOURNAL OF NEUROSCIENCE (2007)
Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors
Mika Nakamoto et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways
Yuhei Nishimura et al.
HUMAN MOLECULAR GENETICS (2007)
Inhibition of p21-activated kinase rescues symptoms of fragile X syndrome in mice
Mansuo L. Hayashi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Increased threshold for spike-timing-dependent plasticity is caused by unreliable calcium signaling in mice lacking fragile X gene Fmr1
Rhiannon M. Meredith et al.
NEURON (2007)
Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at Synapses in a mouse model of fragile X syndrome
Ravi S. Muddashetty et al.
JOURNAL OF NEUROSCIENCE (2007)
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability
Francesca Zalfa et al.
NATURE NEUROSCIENCE (2007)
FMRP mediates mGluR5-dependent translation of amyloid precursor protein
Cara J. Westmark et al.
PLOS BIOLOGY (2007)
Decreased expression of the GABAA receptor in fragile X syndrome
Charlotte D'Hulst et al.
BRAIN RESEARCH (2006)
Evidence for multiple loci from a genome scan of autism kindreds
G. D. Schellenberg et al.
MOLECULAR PSYCHIATRY (2006)
Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: A controlled trial
Elizabeth Berry-Kravis et al.
JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY (2006)
Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP
Deborah D. Hatton et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Matrix metalloproteinase-7 disrupts dendritic spines in hippocampal neurons through NMDA receptor activation
TV Bilousova et al.
JOURNAL OF NEUROCHEMISTRY (2006)
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: Newly described fronto-subcortical dementia
S Bacalman et al.
JOURNAL OF CLINICAL PSYCHIATRY (2006)
Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP
QJ Yan et al.
NEUROPHARMACOLOGY (2005)
Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome
L Restivo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments
E Tabolacci et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
From mRNP trafficking to spine dysmorphogenesis: The roots of fragile X syndrome
C Bagni et al.
NATURE REVIEWS NEUROSCIENCE (2005)
The emerging fragile X premutation phenotype: Evidence from the domain of social cognition
K Cornish et al.
BRAIN AND COGNITION (2005)
Molecular dissection of the events leading to inactivation of the FMR1 gene
R Pietrobono et al.
HUMAN MOLECULAR GENETICS (2005)
Valproate induces replication-independent active DNA demethylation
N Detich et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at Synapses
F Zalfa et al.
CELL (2003)
RNA cargoes associating with in cellular functioning in Fmrl Fmr1 reveal deficits null mice
KY Miyashiro et al.
NEURON (2003)
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
SL Nolin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing U rich target sequences
L Chen et al.
NEUROSCIENCE (2003)
Altered synaptic plasticity in a mouse model of fragile X mental retardation
KM Huber et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population:: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
C Dombrowski et al.
HUMAN MOLECULAR GENETICS (2002)
Genetic and environmental influences on the cognitive outcomes of children with fragile X syndrome
J Dyer-Friedman et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2002)
Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome
V Brown et al.
CELL (2001)
The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome
D Hessl et al.
PEDIATRICS (2001)
Histone deacetylase is a direct target of valproic acid, a potent anticonvulsant, mood stabilizer, and teratogen
CJ Phiel et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Interaction of the transcription factors USF1, USF2, and α-Pal/Nrf-1 with the FMR1 promoter -: Implications for Fragile X mental retardation syndrome
D Kumari et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)