标题
Fragile X syndrome
作者
关键词
-
出版物
Nature Reviews Disease Primers
Volume 3, Issue -, Pages 17065
出版商
Springer Nature
发表日期
2017-09-29
DOI
10.1038/nrdp.2017.65
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
- (2017) Angélique Quartier et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Deficits in the activity of presynaptic γ-aminobutyric acid type B receptors contribute to altered neuronal excitability in fragile X syndrome
- (2017) Ji-Yong Kang et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Arbaclofen in fragile X syndrome: results of phase 3 trials
- (2017) Elizabeth Berry-Kravis et al. Journal of Neurodevelopmental Disorders
- Updated report on tools to measure outcomes of clinical trials in fragile X syndrome
- (2017) Dejan B. Budimirovic et al. Journal of Neurodevelopmental Disorders
- A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome
- (2017) Andrew Ligsay et al. Journal of Neurodevelopmental Disorders
- Phenolics from Mikania micrantha and Their Antioxidant Activity
- (2017) Li-Mei Dong et al. MOLECULES
- Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation
- (2017) Jun Yi Wang et al. NEUROBIOLOGY OF AGING
- White matter microstructure, cognition, and molecular markers in fragile X premutation females
- (2017) Annie L. Shelton et al. NEUROLOGY
- Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice
- (2017) Victor Sabanov et al. NEUROPHARMACOLOGY
- FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome
- (2017) Stephanie L. Sherman et al. PEDIATRICS
- Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment
- (2017) Walter E. Kaufmann et al. PEDIATRICS
- Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome
- (2017) Dan Vershkov et al. Regenerative Medicine
- Prevalence, Nature, and Correlates of Sleep Problems Among Children with Fragile X Syndrome Based on a Large Scale Parent Survey
- (2017) Rebecca Kronk et al. SLEEP
- Somatosensory attention identifies both overt and covert awareness in disorders of consciousness
- (2016) Raechelle M. Gibson et al. ANNALS OF NEUROLOGY
- Trajectory and Predictors of Depression and Anxiety Disorders in Mothers With the FMR1 Premutation
- (2016) Jane E. Roberts et al. BIOLOGICAL PSYCHIATRY
- Lovastatin corrects ERK pathway hyperactivation in fragile X syndrome: potential of platelet’s signaling cascades as new outcome measures in clinical trials
- (2016) David Pellerin et al. BIOMARKERS
- Abnormal Mechanisms of Plasticity and Metaplasticity in Autism Spectrum Disorders and Fragile X Syndrome
- (2016) Lindsay M. Oberman et al. JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY
- A Randomized, Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Children With Fragile X Syndrome
- (2016) Laura Greiss Hess et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- Caregiver Preferences for the Treatment of Males with Fragile X Syndrome
- (2016) James Cross et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- Family Communication and Cascade Testing for Fragile X Syndrome
- (2016) Melissa Raspa et al. Journal of Genetic Counseling
- Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?
- (2016) Nuno Maia et al. JOURNAL OF HUMAN GENETICS
- The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions
- (2016) David Hessl et al. Journal of Neurodevelopmental Disorders
- Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management
- (2016) Randi J. Hagerman et al. Nature Reviews Neurology
- Hypothalamic-pituitary-adrenal axis function in Fragile X Syndrome and its relationship to behaviour: A systematic review
- (2016) Rebecca Lyndsey Hardiman et al. PHYSIOLOGY & BEHAVIOR
- Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons
- (2016) Ricardos Tabet et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Elevated ERK/p90 ribosomal S6 kinase activity underlies audiogenic seizure susceptibility in fragile X mice
- (2016) Kirsty Sawicka et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome
- (2016) Risa Kashima et al. Science Signaling
- Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials
- (2016) Elizabeth Berry-Kravis et al. Science Translational Medicine
- Clinical Potential of Neurosteroids for CNS Disorders
- (2016) Doodipala Samba Reddy et al. TRENDS IN PHARMACOLOGICAL SCIENCES
- Early Language Intervention Using Distance Video-Teleconferencing: A Pilot Study of Young Boys With Fragile X Syndrome and Their Mothers
- (2016) Andrea McDuffie et al. AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY
- Increased Persistent Sodium Current Causes Neuronal Hyperexcitability in the Entorhinal Cortex of Fmr1 Knockout Mice
- (2016) Pan-Yue Deng et al. Cell Reports
- Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome
- (2016) Risa Kashima et al. Science Signaling
- Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders
- (2016) Indhu-Shree Rajan-Babu et al. Genes
- Profiles of aberrant white matter microstructure in fragile X syndrome
- (2016) Scott S. Hall et al. NeuroImage-Clinical
- Expression of fragile X mental retardation protein in neurons and glia of the developing and adult mouse brain
- (2015) Shervin Gholizadeh et al. BRAIN RESEARCH
- The GABAAreceptor is an FMRP target with therapeutic potential in fragile X syndrome
- (2015) Sien Braat et al. CELL CYCLE
- Advanced technologies for the molecular diagnosis of fragile X syndrome
- (2015) Flora Tassone EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Dysregulation and restoration of translational homeostasis in fragile X syndrome
- (2015) Joel D. Richter et al. NATURE REVIEWS NEUROSCIENCE
- NNZ-2566, a Novel Analog of (1–3) IGF-1, as a Potential Therapeutic Agent for Fragile X Syndrome
- (2015) Robert M. J. Deacon et al. NEUROMOLECULAR MEDICINE
- Altered Neuronal and Circuit Excitability in Fragile X Syndrome
- (2015) Anis Contractor et al. NEURON
- Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome
- (2015) Emanuela Pasciuto et al. NEURON
- The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders
- (2015) Sien Braat et al. NEURON
- Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials
- (2015) Sien Braat et al. NEUROPHARMACOLOGY
- Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back
- (2015) Christina Gross et al. Neurotherapeutics
- Fmr1deficiency promotes age-dependent alterations in the cortical synaptic proteome
- (2015) Bin Tang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Independent role for presynaptic FMRP revealed by anFMR1missense mutation associated with intellectual disability and seizures
- (2015) Leila K. Myrick et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Examining the neural correlates of emergent equivalence relations in fragile X syndrome
- (2015) Megan Klabunde et al. PSYCHIATRY RESEARCH-NEUROIMAGING
- Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons
- (2015) Chul-Yong Park et al. Cell Reports
- Increased Expression of the PI3K Enhancer PIKE Mediates Deficits in Synaptic Plasticity and Behavior in Fragile X Syndrome
- (2015) Christina Gross et al. Cell Reports
- Fmrp Interacts with Adar and Regulates RNA Editing, Synaptic Density and Locomotor Activity in Zebrafish
- (2015) Adi Shamay-Ramot et al. PLoS Genetics
- Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan
- (2015) Madiha Kanwal et al. PLoS One
- Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients
- (2015) Charlotte D’Hulst et al. PLoS One
- Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis
- (2015) Aurore Curie et al. PLoS One
- Effect of lovastatin on behavior in children and adults with fragile X syndrome: An open-label study
- (2014) Artuela Çaku et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Autism and anxiety in males with fragile X syndrome: An exploratory analysis of neurobehavioral profiles from a parent survey
- (2014) Victor B. Talisa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Epidemiology of fragile X syndrome: A systematic review and meta-analysis
- (2014) Jessica Hunter et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A Chromatin-Dependent Role of the Fragile X Mental Retardation Protein FMRP in the DNA Damage Response
- (2014) Roman Alpatov et al. CELL
- Fragile X syndrome neurobiology translates into rational therapy
- (2014) Sien Braat et al. DRUG DISCOVERY TODAY
- Fragile X syndrome due to a missense mutation
- (2014) Leila K Myrick et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences
- (2014) Joshua A. Suhl et al. HUMAN MOLECULAR GENETICS
- AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
- (2014) Carolyn M Yrigollen et al. Journal of Neurodevelopmental Disorders
- Associated features in females with an FMR1 premutation
- (2014) Anne C Wheeler et al. Journal of Neurodevelopmental Disorders
- Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome
- (2014) Robert F Berman et al. Journal of Neurodevelopmental Disorders
- The Developmental Switch in GABA Polarity Is Delayed in Fragile X Mice
- (2014) Q. He et al. JOURNAL OF NEUROSCIENCE
- Genetic Removal of Matrix Metalloproteinase 9 Rescues the Symptoms of Fragile X Syndrome in a Mouse Model
- (2014) H. Sidhu et al. JOURNAL OF NEUROSCIENCE
- Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome
- (2014) Jeannie Visootsak et al. JOURNAL OF PEDIATRICS
- Impact of acamprosate on plasma amyloid-β precursor protein in youth: A pilot analysis in fragile X syndrome-associated and idiopathic autism spectrum disorder suggests a pharmacodynamic protein marker
- (2014) Craig A. Erickson et al. JOURNAL OF PSYCHIATRIC RESEARCH
- Fragile X Mental Retardation Protein Regulates Translation by Binding Directly to the Ribosome
- (2014) Eileen Chen et al. MOLECULAR CELL
- GABAergic circuit dysfunction in the Drosophila Fragile X syndrome model
- (2014) Cheryl L. Gatto et al. NEUROBIOLOGY OF DISEASE
- Fragile X Syndrome: A Review of Associated Medical Problems
- (2014) S. A. Kidd et al. PEDIATRICS
- Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome
- (2014) D. Colak et al. SCIENCE
- Oxytocin-Mediated GABA Inhibition During Delivery Attenuates Autism Pathogenesis in Rodent Offspring
- (2014) R. Tyzio et al. SCIENCE
- Fragile X mental retardation protein controls synaptic vesicle exocytosis by modulating N-type calcium channel density
- (2014) Laurent Ferron et al. Nature Communications
- Pharmacogenetic Inhibition of eIF4E-Dependent Mmp9 mRNA Translation Reverses Fragile X Syndrome-like Phenotypes
- (2014) Christos G. Gkogkas et al. Cell Reports
- Clinical and molecular implications of mosaicism in FMR1 full mutations
- (2014) Dalyir Pretto et al. Frontiers in Genetics
- Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency
- (2014) Anne C. Wheeler et al. Frontiers in Genetics
- Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms
- (2013) Paul Hagerman ACTA NEUROPATHOLOGICA
- High MMP-9 activity levels in fragile X syndrome are lowered by minocycline
- (2013) Magdalena Dziembowska et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Developmental changes in expression of inhibitory neuronal proteins in the Fragile X Syndrome mouse basolateral amygdala
- (2013) Sebila Kratovac et al. BRAIN RESEARCH
- Development of an Expressive Language Sampling Procedure in Fragile X Syndrome
- (2013) Elizabeth Berry-Kravis et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome
- (2013) Mary Jacena S. Leigh et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- Homeostatic Responses Fail to Correct Defective Amygdala Inhibitory Circuit Maturation in Fragile X Syndrome
- (2013) R. L. Vislay et al. JOURNAL OF NEUROSCIENCE
- Electrocortical changes associated with minocycline treatment in fragile X syndrome
- (2013) Andrea Schneider et al. JOURNAL OF PSYCHOPHARMACOLOGY
- Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
- (2013) Randi Hagerman et al. LANCET NEUROLOGY
- The DNA Replication Program Is Altered at the FMR1 Locus in Fragile X Embryonic Stem Cells
- (2013) Jeannine Gerhardt et al. MOLECULAR CELL
- Targeting the endocannabinoid system in the treatment of fragile X syndrome
- (2013) Arnau Busquets-Garcia et al. NATURE MEDICINE
- The translation of translational control by FMRP: therapeutic targets for FXS
- (2013) Jennifer C Darnell et al. NATURE NEUROSCIENCE
- FMRP Regulates Neurotransmitter Release and Synaptic Information Transmission by Modulating Action Potential Duration via BK Channels
- (2013) Pan-Yue Deng et al. NEURON
- Lovastatin Corrects Excess Protein Synthesis and Prevents Epileptogenesis in a Mouse Model of Fragile X Syndrome
- (2013) Emily K. Osterweil et al. NEURON
- The Unstable Repeats—Three Evolving Faces of Neurological Disease
- (2013) David L. Nelson et al. NEURON
- Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development
- (2013) Andreea S. Pop et al. PSYCHOPHARMACOLOGY
- Impact of acamprosate on behavior and brain-derived neurotrophic factor: an open-label study in youth with fragile X syndrome
- (2013) Craig A. Erickson et al. PSYCHOPHARMACOLOGY
- Fragile X mental retardation protein and synaptic plasticity
- (2013) Michael S Sidorov et al. Molecular Brain
- Identifying Large-Scale Brain Networks in Fragile X Syndrome
- (2013) Scott S. Hall et al. JAMA Psychiatry
- mRNA and protein expression for novel GABAA receptors θ and ρ2 are altered in schizophrenia and mood disorders; relevance to FMRP-mGluR5 signaling pathway
- (2013) S H Fatemi et al. Translational Psychiatry
- Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of Fragile X Syndrome
- (2012) Sarah E. Rotschafer et al. BRAIN RESEARCH
- Fragile X Syndrome
- (2012) Yingratana McLennan et al. CURRENT GENOMICS
- Craniofacial characteristics of fragile X syndrome in mouse and man
- (2012) Inge Heulens et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome
- (2012) C. A. Hoeffer et al. GENES BRAIN AND BEHAVIOR
- AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
- (2012) Carolyn M. Yrigollen et al. GENETICS IN MEDICINE
- Systematic mapping of fragile X granules in the mouse brain reveals a potential role for presynaptic FMRP in sensorimotor functions
- (2012) Michael R. Akins et al. JOURNAL OF COMPARATIVE NEUROLOGY
- Health and Economic Consequences of Fragile X Syndrome for Caregivers
- (2012) Donald B. Bailey et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- 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
- Trajectories of Early Brain Volume Development in Fragile X Syndrome and Autism
- (2012) Heather Cody Hazlett et al. JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
- Early Behavioral Intervention Is Associated With Normalized Brain Activity in Young Children With Autism
- (2012) Geraldine Dawson et al. JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
- FMRP targets distinct mRNA sequence elements to regulate protein expression
- (2012) Manuel Ascano et al. NATURE
- De Novo Gene Disruptions in Children on the Autistic Spectrum
- (2012) Ivan Iossifov 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
- Uncoupling of the endocannabinoid signalling complex in a mouse model of fragile X syndrome
- (2012) Kwang-Mook Jung et al. Nature Communications
- FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States
- (2012) Flora Tassone et al. Genome Medicine
- Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective
- (2011) Michael R. Santoro et al. Annual Review of Pathology-Mechanisms of Disease
- FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
- (2011) Jennifer C. Darnell et al. CELL
- Fragile X Syndrome: The GABAergic System and Circuit Dysfunction
- (2011) Scott M. Paluszkiewicz et al. DEVELOPMENTAL NEUROSCIENCE
- 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
- Identification of Expanded Alleles of the FMR1 Gene Among High-Risk Population in Indonesia by Using Blood Spot Screening
- (2011) Tri Indah Winarni et al. Genetic Testing and Molecular Biomarkers
- A metabolomic and systems biology perspective on the brain of the Fragile X syndrome mouse model
- (2011) L. Davidovic et al. GENOME RESEARCH
- Inhibition of GSK3 improves hippocampus-dependent learning and rescues neurogenesis in a mouse model of fragile X syndrome
- (2011) W. Guo et al. HUMAN MOLECULAR GENETICS
- Influence of matrix metalloproteinase MMP-9 on dendritic spine morphology
- (2011) P. Michaluk et al. JOURNAL OF CELL SCIENCE
- Downregulation of GABAA β Subunits is Transcriptionally Controlled by Fmr1p
- (2011) Andrew Hong et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- Impaired inhibitory control of cortical synchronization in fragile X syndrome
- (2011) Scott M. Paluszkiewicz et al. JOURNAL OF NEUROPHYSIOLOGY
- Autism in Fragile X Syndrome: A Category Mistake?
- (2011) Scott S. Hall et al. JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
- Reversible Inhibition of PSD-95 mRNA Translation by miR-125a, FMRP Phosphorylation, and mGluR Signaling
- (2011) Ravi S. Muddashetty et al. MOLECULAR CELL
- Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning
- (2011) Weixiang Guo et al. NATURE MEDICINE
- Health Supervision for Children With Fragile X Syndrome
- (2011) J. H. Hersh et al. PEDIATRICS
- Reversal of Fragile X Phenotypes by Manipulation of AβPP/Aβ Levels in Fmr1KO Mice
- (2011) Cara J. Westmark et al. PLoS One
- 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
- Shaping up the membrane: diacylglycerol coordinates spatial orientation of signaling
- (2011) María Almena et al. TRENDS IN BIOCHEMICAL SCIENCES
- Negotiating desires and options: How mothers who carry the fragile X gene experience reproductive decisions
- (2011) Kelly Amanda Raspberry et al. SOCIAL SCIENCE & MEDICINE
- Open-label add-on treatment trial of minocycline in fragile X syndrome
- (2010) Carlo Paribello et al. BMC Neurology
- Aging in fragile X syndrome
- (2010) Agustini Utari et al. Journal of Neurodevelopmental Disorders
- Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization
- (2010) Lisa Cordeiro et al. Journal of Neurodevelopmental Disorders
- Excess Phosphoinositide 3-Kinase Subunit Synthesis and Activity as a Novel Therapeutic Target in Fragile X Syndrome
- (2010) C. Gross et al. JOURNAL OF NEUROSCIENCE
- Dysregulation of mTOR Signaling in Fragile X Syndrome
- (2010) A. Sharma et al. JOURNAL OF NEUROSCIENCE
- Hypersensitivity to mGluR5 and ERK1/2 Leads to Excessive Protein Synthesis in the Hippocampus of a Mouse Model of Fragile X Syndrome
- (2010) E. K. Osterweil et al. JOURNAL OF NEUROSCIENCE
- Defective GABAergic Neurotransmission and Pharmacological Rescue of Neuronal Hyperexcitability in the Amygdala in a Mouse Model of Fragile X Syndrome
- (2010) J. L. Olmos-Serrano et al. JOURNAL OF NEUROSCIENCE
- Enhanced Endocannabinoid Signaling Elevates Neuronal Excitability in Fragile X Syndrome
- (2010) L. Zhang et al. JOURNAL OF NEUROSCIENCE
- Physiological Activation of Synaptic Rac>PAK (p-21 Activated Kinase) Signaling Is Defective in a Mouse Model of Fragile X Syndrome
- (2010) L. Y. Chen et al. JOURNAL OF NEUROSCIENCE
- Common variants in DGKK are strongly associated with risk of hypospadias
- (2010) Loes F M van der Zanden et al. NATURE GENETICS
- Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack
- (2010) Maile R Brown et al. NATURE NEUROSCIENCE
- The Endocannabinoid 2-Arachidonoylglycerol Produced by Diacylglycerol Lipase α Mediates Retrograde Suppression of Synaptic Transmission
- (2010) Asami Tanimura et al. NEURON
- Early developmental alterations in GABAergic protein expression in fragile X knockout mice
- (2010) Daniel C. Adusei et al. NEUROPHARMACOLOGY
- Abnormal mGlu 5 Receptor/Endocannabinoid Coupling in Mice Lacking FMRP and BC1 RNA
- (2010) Mauro Maccarrone et al. NEUROPSYCHOPHARMACOLOGY
- Aripiprazole in autism spectrum disorders and fragile X syndrome
- (2010) Craig A. Erickson et al. Neurotherapeutics
- Fragile X mental retardation protein levels are decreased in major psychiatric disorders
- (2010) S. Hossein Fatemi et al. SCHIZOPHRENIA RESEARCH
- Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA
- (2009) Bradford Coffee et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Screening and instability ofFMR1alleles in a prospective sample of 24,449 motherânewborn pairs from the general population
- (2009) S Lévesque et al. CLINICAL GENETICS
- High-Risk Fragile X Screening in Guatemala: Use of a New Blood Spot Polymerase Chain Reaction Technique
- (2009) Jennifer Yuhas et al. Genetic Testing and Molecular Biomarkers
- Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population
- (2009) Isabel Fernandez-Carvajal et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Diacylglycerol kinases in the regulation of dendritic spines
- (2009) Karam Kim et al. JOURNAL OF NEUROCHEMISTRY
- Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism
- (2009) Heather Cody Hazlett et al. Journal of Neurodevelopmental Disorders
- Autistic behavior in boys with fragile X syndrome: social approach and HPA-axis dysfunction
- (2009) Jane E. Roberts et al. Journal of Neurodevelopmental Disorders
- Randomized, Controlled Trial of an Intervention for Toddlers With Autism: The Early Start Denver Model
- (2009) G. Dawson et al. PEDIATRICS
- No Change in the Age of Diagnosis for Fragile X Syndrome: Findings From a National Parent Survey
- (2009) D. B. Bailey et al. PEDIATRICS
- A Novel Function for Fragile X Mental Retardation Protein in Translational Activation
- (2009) Elias G Bechara et al. PLOS BIOLOGY
- Child and genetic variables associated with maternal adaptation to fragile X syndrome: A multidimensional analysis
- (2008) Donald B. Bailey et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Co-occurring conditions associated withFMR1gene variations: Findings from a national parent survey
- (2008) Donald B. Bailey et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Aberrant Brain Activation During Gaze Processing in Boys With Fragile X Syndrome
- (2008) Christa Watson et al. ARCHIVES OF GENERAL PSYCHIATRY
- Morphometric Spatial Patterns Differentiating Boys With Fragile X Syndrome, Typically Developing Boys, and Developmentally Delayed Boys Aged 1 to 3 Years
- (2008) Fumiko Hoeft et al. ARCHIVES OF GENERAL PSYCHIATRY
- Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)
- (2008) Charlotte D'Hulst et al. BRAIN RESEARCH
- The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP
- (2008) Ilaria Napoli et al. CELL
- Downregulation of Tonic GABAergic Inhibition in a Mouse Model of Fragile X Syndrome
- (2008) Giulia Curia et al. CEREBRAL CORTEX
- Diacylglycerol Kinases as Emerging Potential Drug Targets for a Variety of Diseases
- (2008) Fumio Sakane et al. CURRENT DRUG TARGETS
- Imbalance of Neocortical Excitation and Inhibition and Altered UP States Reflect Network Hyperexcitability in the Mouse Model of Fragile X Syndrome
- (2008) Jay R. Gibson et al. JOURNAL OF NEUROPHYSIOLOGY
- Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila
- (2008) Shuang Chang et al. Nature Chemical Biology
- Prefrontal social cognition network dysfunction underlying face encoding and social anxiety in fragile X syndrome
- (2008) Laura M. Holsen et al. NEUROIMAGE
- FMRP Acts as a Key Messenger for Dopamine Modulation in the Forebrain
- (2008) Hansen Wang et al. NEURON
- Advances in the Treatment of Fragile X Syndrome
- (2008) R. J. Hagerman et al. PEDIATRICS
- Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP)
- (2007) Doron Gothelf et al. ANNALS OF NEUROLOGY
- Abnormal Striatal GABA Transmission in the Mouse Model for the Fragile X Syndrome
- (2007) Diego Centonze et al. BIOLOGICAL PSYCHIATRY
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started