Item Type | Name |
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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The apolipoprotein E epsilon4 allele and incident Alzheimer's disease in persons with mild cognitive impairment.
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Academic Article
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The apolipoprotein E epsilon 4 allele and decline in different cognitive systems during a 6-year period.
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Academic Article
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Apolipoprotein E epsilon4 allele, AD pathology, and the clinical expression of Alzheimer's disease.
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Academic Article
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Amyloid mediates the association of apolipoprotein E e4 allele to cognitive function in older people.
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Academic Article
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Fragile X gene expansions are not associated with dementia.
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Academic Article
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Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease.
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Academic Article
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Viral delivery of glial cell line-derived neurotrophic factor improves behavior and protects striatal neurons in a mouse model of Huntington's disease.
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Academic Article
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The apolipoprotein E epsilon4 allele increases the odds of chronic cerebral infarction [corrected] detected at autopsy in older persons.
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Academic Article
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Incidence of Alzheimer disease in a biracial urban community: relation to apolipoprotein E allele status.
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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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Erratum: Emerging topics in FXTAS.
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Academic Article
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Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system.
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Academic Article
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Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems.
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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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Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
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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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Activation of peroxisome proliferator-activated receptor a induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders.
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Academic Article
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Racial differences may influence the role of cholecystokinin polymorphisms in Parkinson's disease hallucinations.
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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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Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.
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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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Emerging topics in FXTAS.
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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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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
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Academic Article
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X-inactivation in the clinical phenotype of fragile X premutation carrier sisters.
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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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Progression of tremor and ataxia in male carriers of the FMR1 premutation.
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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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New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.
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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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Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis.
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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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Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.
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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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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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Fibroblast phenotype in male carriers of FMR1 premutation alleles.
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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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Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
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Academic Article
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Genetic variation analysis in parkinson disease patients with and without hallucinations: case-control study.
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Academic Article
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Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene.
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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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The apolipoprotein E epsilon 2 allele and decline in episodic memory.
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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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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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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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Intrathecal 2-hydroxypropyl-ß-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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Updated report on tools to measure outcomes of clinical trials in fragile X syndrome.
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Academic Article
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Fragile X targeted pharmacotherapy: lessons learned and future directions.
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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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Developmental profiles of infants with an FMR1 premutation.
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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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The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions.
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Academic Article
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Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
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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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Cognitive trajectories in rare neurogenetic diseases: minding the gaps and filling the potholes.
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Academic Article
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Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.
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Academic Article
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Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
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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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Distribution of AGG interruption patterns within nine world populations.
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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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AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.
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Academic Article
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Associated features in females with an FMR1 premutation.
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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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Improving IQ measurement in intellectual disabilities using true deviation from population norms.
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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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Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome.
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Academic Article
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Developing BACE-1 inhibitors for FXS.
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Academic Article
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Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
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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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CDKL5 and ARX mutations in males with early-onset epilepsy.
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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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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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FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States.
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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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A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
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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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Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
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Academic Article
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Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
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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 AßPP/Aß 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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Variable human phenotype associated with novel deletions of the PHOX2B gene.
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Academic Article
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Monozygotic twins discordant for ROHHAD phenotype.
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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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Effect of Anticoagulants on Amyloid ß-Protein Precursor and Amyloid Beta Levels in Plasma.
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Academic Article
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.
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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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Mutations in prickle orthologs cause seizures in flies, mice, and humans.
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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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Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
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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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[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
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Academic Article
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Update on Kleefstra Syndrome.
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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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Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
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Academic Article
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Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP).
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Academic Article
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Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
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Academic Article
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HTR2A variation and sudden infant death syndrome: a case-control analysis.
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Academic Article
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Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.
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Academic Article
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Genetic variation in the HTR1A gene and sudden infant death syndrome.
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Academic Article
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.
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Academic Article
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Sudden infant death syndrome: rare mutation in the serotonin system FEV gene.
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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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Sudden Infant Death Syndrome: review of implicated genetic factors.
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Academic Article
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Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
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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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Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.
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Academic Article
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Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome.
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Academic Article
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3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis.
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Academic Article
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In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.
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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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Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease.
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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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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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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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Carnitine levels and the ketogenic diet.
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Academic Article
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Stable expression and heterologous coupling of the kappa opioid receptor in cell lines of neural and nonneural origin.
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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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Heterologous expression of the serotonin 5-HT1A receptor in neural and non-neural cell lines.
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Academic Article
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Neuromodulator-mediated phosphorylation of specific proteins in a neurotumor hybrid cell line (NCB-20).
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Academic Article
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Differential regulation of multiple neuroreceptors in a somatic cell hybrid by inhibitors of glycoprotein processing.
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Academic Article
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Possible role of gangliosides in regulating an adenylate cyclase-linked 5-hydroxytryptamine (5-HT1) receptor.
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Academic Article
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Evidence for [D-Ala2,D-Leu5]enkephalin-induced supersensitivity to 5-hydroxytryptamine in a neurotumor x brain hybrid cell line (NCB-20).
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Academic Article
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Specific receptor-mediated inhibition of cyclic AMP synthesis by dopamine in a neuroblastoma X brain hybrid cell line NCB-20.
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Academic Article
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Gangliosides as modulators of the coupling of neurotransmitters to adenylate cyclase.
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Academic Article
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Characterization of an adenylate cyclase-linked serotonin (5-HT1) receptor in a neuroblastoma X brain explant hybrid cell line (NCB-20).
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Academic Article
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Modulation of an adenylate cyclase-linked serotonin (5-HT) receptor system in a neuroblastoma x brain explant hybrid cell line (NCB-20) by opiates, prostaglandins, and alpha 2-adrenergic agonists.
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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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New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry.
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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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X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus.
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Academic Article
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Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence.
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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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Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases.
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Academic Article
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X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
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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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Bruising and the ketogenic diet: evidence for diet-induced changes in platelet function.
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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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Development of genomic reference materials for Huntington disease genetic testing.
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Academic Article
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Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-ß-Cyclodextrin.
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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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ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome.
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Academic Article
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Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
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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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The Corpus Callosum Splenium Sign in Fragile X-Associated Tremor Ataxia 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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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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Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
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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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BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing.
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Academic Article
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Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale.
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Academic Article
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Expression and Characterization of Human Fragile X Mental Retardation Protein Isoforms and Interacting Proteins in Human Cells.
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Academic Article
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Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.
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Academic Article
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Discovering translational biomarkers in neurodevelopmental disorders.
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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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Mutation update for the SATB2 gene.
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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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N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease.
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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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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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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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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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Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1.
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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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Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.
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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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TECPR2 mutation-associated respiratory dysregulation: more than central apnea.
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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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Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment.
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Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome.
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Anesthetic management of pediatric patients with Niemann-Pick disease type C for intrathecal 2-hydroxypropyl-ß-cyclodextrin injection.
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Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.
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Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.
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Normative database of spatiotemporal gait parameters using inertial sensors in typically developing children and young adults.
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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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Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.
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Optimization of Protocols for Detection of De Novo Protein Synthesis in Whole Blood Samples via Azide-Alkyne Cycloaddition.
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Response to Placebo in Fragile X Syndrome Clinical Trials: An Initial Analysis.
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A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
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Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in Fragile X-associated Tremor/Ataxia Syndrome.
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Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome.
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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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Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
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Development of Neural Response to Novel Sounds in Fragile X Syndrome: Potential Biomarkers.
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Reduced Expression of Cerebral Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome.
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Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
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A Unique Visual Attention Profile Associated With the FMR1 Premutation.
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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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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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Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis.
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Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.
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Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.
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Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation.
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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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Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
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Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities.
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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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Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome.
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Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.
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A novel measure of matching categories for early development: Item creation and pilot feasibility study.
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Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.
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Tremorography in fragile X-associated tremor/ataxia syndrome, Parkinson's disease and essential tremor.
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The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities.
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Normative database of postural sway measures using inertial sensors in typically developing children and young adults.
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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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Correction to: Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.
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Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
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Symptoms of Autism Spectrum Disorder in Individuals with Down Syndrome.
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Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study.
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Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.
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Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome.
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The CD22-IGF2R interaction is a therapeutic target for microglial lysosome dysfunction in Niemann-Pick type C.
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De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
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Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort.
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Consistently High Agreement Between Independent Raters of Niemann-Pick Type C1 Clinical Severity Scale in Phase 2/3 Trial.
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Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort.
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The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
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Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome.
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Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies.
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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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Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study.
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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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Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.
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Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome.
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Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders.
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