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Concept
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Fragile X Syndrome
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Academic Article
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Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
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Academic Article
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Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.
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Academic Article
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Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome.
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Academic Article
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Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).
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Academic Article
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Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.
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Academic Article
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Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.
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Academic Article
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Executive dysfunction in young FMR1 premutation carriers: forme fruste of FXTAS or new phenotype?
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Academic Article
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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
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Academic Article
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Neuropathic features in fragile X premutation carriers.
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Academic Article
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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
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Academic Article
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Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome.
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Academic Article
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Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
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Academic Article
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Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.
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Academic Article
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Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial.
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Academic Article
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Fibroblast phenotype in male carriers of FMR1 premutation alleles.
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Academic Article
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Feasibility, reproducibility, and clinical validity of the pediatric anxiety rating scale-revised for fragile X syndrome.
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Academic Article
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Cholesterol levels in fragile X syndrome.
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Academic Article
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Tremor and ataxia in fragile X premutation carriers: blinded videotape study.
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Academic Article
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A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.
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Academic Article
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Fragile X syndrome and fragile X-associated tremor ataxia syndrome.
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Academic Article
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Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.
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Academic Article
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Fragile X syndrome.
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Academic Article
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Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results.
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Academic Article
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Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
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Academic Article
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Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.
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Academic Article
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FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.
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Academic Article
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The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.
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Academic Article
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Updated report on tools to measure outcomes of clinical trials in fragile X syndrome.
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Academic Article
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Arbaclofen in fragile X syndrome: results of phase 3 trials.
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Academic Article
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Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome.
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Academic Article
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A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome.
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Academic Article
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Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.
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Academic Article
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Importance of a specialty clinic for individuals with fragile X syndrome.
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Academic Article
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Clinicians' experiences with the fragile X clinical and research consortium.
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Academic Article
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Mavoglurant in adolescents with fragile X syndrome: analysis of Clinical Global Impression-Improvement source data from a double-blind therapeutic study followed by an open-label, long-term extension study.
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Academic Article
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Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.
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Academic Article
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Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.
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Academic Article
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Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back.
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Academic Article
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White matter disease and cognitive impairment in FMR1 premutation carriers.
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Academic Article
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Fragile X syndrome: a review of associated medical problems.
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Academic Article
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Autism and fragile X syndrome.
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Academic Article
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Developing a utility index for the Aberrant Behavior Checklist (ABC-C) for fragile X syndrome.
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Academic Article
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Climbing the branches of a family tree: diagnosis of fragile X syndrome.
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Academic Article
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Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome.
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Academic Article
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Development of mavoglurant and its potential for the treatment of fragile X syndrome.
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Academic Article
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The challenges of clinical trials in fragile X syndrome.
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Academic Article
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Outcome measures for clinical trials in fragile X syndrome.
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Academic Article
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Development of an expressive language sampling procedure in fragile X syndrome: a pilot study.
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Academic Article
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Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
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Academic Article
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Newborn, carrier, and early childhood screening recommendations for fragile X.
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Academic Article
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Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial.
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Academic Article
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Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS).
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Academic Article
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Clinic-based retrospective analysis of psychopharmacology for behavior in fragile x syndrome.
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Academic Article
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Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey.
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Academic Article
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Reversal of fragile X phenotypes by manipulation of A?PP/A? levels in Fmr1KO mice.
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Academic Article
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Fragile X syndrome and targeted treatment trials.
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Academic Article
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Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment.
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Academic Article
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Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond.
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Academic Article
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Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
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Academic Article
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Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
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Academic Article
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Autonomic regulation in fragile X syndrome.
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Academic Article
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Targeted treatments for fragile X syndrome.
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Academic Article
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Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome.
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Academic Article
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Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
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Academic Article
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Seizures in fragile X syndrome: characteristics and comorbid diagnoses.
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Academic Article
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Open-label add-on treatment trial of minocycline in fragile X syndrome.
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Academic Article
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Fragile X: leading the way for targeted treatments in autism.
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Academic Article
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Aging in fragile X syndrome.
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Academic Article
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Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.
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Academic Article
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Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
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Academic Article
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CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).
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Academic Article
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Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.
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Academic Article
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Methylation analysis of the fragile X syndrome by PCR.
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Academic Article
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Neurological and endocrine phenotypes of fragile X carrier women.
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Academic Article
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A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes.
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Academic Article
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A review of fragile X premutation disorders: expanding the psychiatric perspective.
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Academic Article
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A pilot open label, single dose trial of fenobam in adults with fragile X syndrome.
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Academic Article
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Advances in the treatment of fragile X syndrome.
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Academic Article
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A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome.
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Academic Article
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Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment.
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Academic Article
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Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome.
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Academic Article
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Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome.
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Academic Article
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Characterization of potential outcome measures for future clinical trials in fragile X syndrome.
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Academic Article
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Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.
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Academic Article
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Aging in individuals with the FMR1 mutation.
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Academic Article
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Psychopharmacology in fragile X syndrome--present and future.
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Academic Article
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Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
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Academic Article
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Epilepsy in fragile X syndrome.
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Academic Article
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Cognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers.
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Academic Article
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Overexpression of fragile X gene (FMR-1) transcripts increases cAMP production in neural cells.
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Academic Article
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Cyclic AMP metabolism in fragile X syndrome.
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Academic Article
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Fragile X syndrome in a normal IQ male with learning and emotional problems.
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Academic Article
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Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome.
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Academic Article
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Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations.
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Academic Article
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Utility of the Hebb-Williams Maze Paradigm for Translational Research in Fragile X Syndrome: A Direct Comparison of Mice and Humans.
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Academic Article
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Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome.
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Academic Article
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Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome.
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Academic Article
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Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.
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Academic Article
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Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective.
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Academic Article
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Best Practices in Fragile X Syndrome Treatment Development.
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Academic Article
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Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome.
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Academic Article
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Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities.
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Academic Article
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Altered steady state and activity-dependent de novo protein expression in fragile X syndrome.
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Academic Article
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Emerging pharmacological therapies in fragile X syndrome and autism.
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Academic Article
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Preventive care services and health behaviors in children with fragile X syndrome.
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Academic Article
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Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2.
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Academic Article
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Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation.
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Academic Article
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Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.
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Academic Article
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Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis.
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Academic Article
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Toilet Training in Fragile X Syndrome.
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Academic Article
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Vocabulary comprehension in adults with fragile X syndrome (FXS).
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Academic Article
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Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.
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Academic Article
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Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS).
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Academic Article
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Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity.
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Academic Article
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Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity.
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Academic Article
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Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment.
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Academic Article
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Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome.
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Academic Article
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Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.
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Academic Article
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A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome.
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Academic Article
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Response to Placebo in Fragile X Syndrome Clinical Trials: An Initial Analysis.
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Academic Article
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Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome.
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Academic Article
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The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS.
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Academic Article
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Development of Neural Response to Novel Sounds in Fragile X Syndrome: Potential Biomarkers.
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Academic Article
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Reduced Expression of Cerebral Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome.
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Academic Article
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Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders.
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Academic Article
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Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis.
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Academic Article
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Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial.
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Academic Article
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Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome.
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Academic Article
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Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.
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Academic Article
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Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.
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Academic Article
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Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study.
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Academic Article
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Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome.
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Academic Article
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Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort.
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Academic Article
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Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort.
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Academic Article
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The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
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Academic Article
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Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies.
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Academic Article
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Independent evaluation of the harvard automated processing pipeline for Electroencephalography 1.0 using multi-site EEG data from children with Fragile X Syndrome.
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Academic Article
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Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study.
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Academic Article
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Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study.
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Academic Article
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Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome.
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Academic Article
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Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders.
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Academic Article
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Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives.
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Academic Article
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A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX).
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Academic Article
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Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability.
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Academic Article
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Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control.
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Academic Article
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Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP.
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Academic Article
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Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
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Academic Article
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Lymphocytic Extracellular Signal-Regulated Kinase Dysregulation in Autism Spectrum Disorder.
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Academic Article
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The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities.
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Academic Article
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Effects of AFQ056 on language learning in fragile X syndrome.
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Academic Article
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Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome.
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Academic Article
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Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome.
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Academic Article
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Emerging Therapeutic Strategies for Fragile X Syndrome: Q&A.
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