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Concept
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Young Adult
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Concept
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Adult
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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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Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
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Academic Article
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FMR1 gray-zone alleles: association with Parkinson's disease in women?
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Academic Article
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Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.
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Academic Article
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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
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Academic Article
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Progression of tremor and ataxia in male carriers of the FMR1 premutation.
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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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Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
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Academic Article
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Changes in growth and seizure reduction in children on the ketogenic diet as a treatment for intractable epilepsy.
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Academic Article
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Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.
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Academic Article
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Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.
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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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Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
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Academic Article
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Congenital central hypoventilation syndrome: neurocognitive functioning in school age children.
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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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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
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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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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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Intrathecal 2-hydroxypropyl-?-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.
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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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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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Development of an expressive language sampling procedure in fragile X syndrome: a pilot study.
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Academic Article
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
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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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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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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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Variable human phenotype associated with novel deletions of the PHOX2B gene.
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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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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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Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.
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Academic Article
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[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
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Academic Article
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Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome.
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Academic Article
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An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
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Academic Article
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Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.
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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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PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
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Academic Article
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Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.
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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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Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder.
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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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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
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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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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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Characterization of potential outcome measures for future clinical trials in fragile X syndrome.
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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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Carnitine levels and the ketogenic diet.
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Academic Article
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Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
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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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Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
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Academic Article
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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
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Academic Article
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Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid 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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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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Altered steady state and activity-dependent de novo protein expression in fragile X syndrome.
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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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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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Vocabulary comprehension in adults with fragile X syndrome (FXS).
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Academic Article
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Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation.
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Academic Article
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Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
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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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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
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Academic Article
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Validation of the NIH Toolbox Cognitive Battery in intellectual disability.
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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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Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.
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Academic Article
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Normative database of spatiotemporal gait parameters using inertial sensors in typically developing children and young adults.
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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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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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Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling.
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Academic Article
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Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.
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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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Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
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Academic Article
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Normative database of postural sway measures using inertial sensors in typically developing children and young adults.
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Academic Article
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Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults.
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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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Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C.
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Academic Article
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The association between expressive language skills and adaptive behavior in individuals with Down syndrome.
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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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Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education.
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Academic Article
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Low normal FMR1 genotype in older adult women: Psychological well-being and motor function.
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