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Developmental associations between cognition and adaptive behavior in intellectual and developmental disability.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09542-z
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- Publication type:
- Article
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09541-0
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- Article
Potential Prodromal Digital Postural Sway Markers for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Detected via Dual-Tasking and Sensory Manipulation.
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- Sensors (14248220), 2024, v. 24, n. 8, p. 2586, doi. 10.3390/s24082586
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- Article
Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome.
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- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 2, p. 725, doi. 10.1007/s10803-022-05821-7
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- Article
Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome.
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- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 1, p. 301, doi. 10.1007/s10803-022-05779-6
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- Article
Digital gait markers to potentially distinguish fragile X-associated tremor/ataxia syndrome, Parkinson’s disease, and essential tremor.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1308698
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- Article
Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education.
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- Cells (2073-4409), 2023, v. 12, n. 17, p. 2137, doi. 10.3390/cells12172137
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- Article
Updated consensus guidelines on the management of Phelan–McDermid syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2015, doi. 10.1002/ajmg.a.63312
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- Publication type:
- Article
Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control.
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- Experimental Brain Research, 2023, v. 241, n. 8, p. 1975, doi. 10.1007/s00221-023-06653-2
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- Article
Expressive language sampling and outcome measures for treatment trials in fragile X and down syndromes: composite scores and psychometric properties.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36087-3
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- Article
Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome.
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- American Journal on Intellectual & Developmental Disabilities, 2023, v. 128, n. 3, p. 254, doi. 10.1352/1944-7558-128.3.254
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- Article
Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration.
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- Frontiers in Neurology, 2023, v. 14, p. 01, doi. 10.3389/fneur.2023.1098454
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- Publication type:
- Article
The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities.
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- Journal of Applied Research in Intellectual Disabilities, 2023, v. 36, n. 2, p. 394, doi. 10.1111/jar.13069
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- Article
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1.
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- Biomarker Research, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40364-023-00448-x
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- Publication type:
- Article
FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.
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- American Journal on Intellectual & Developmental Disabilities, 2023, v. 128, n. 1, p. 1, doi. 10.1352/1944-7558-128.1.1
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- Publication type:
- Article
A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX).
- Published in:
- Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09466-6
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- Publication type:
- Article
The association between expressive language skills and adaptive behavior in individuals with Down syndrome.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-24478-x
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- Publication type:
- Article
Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders.
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- Journal of Child Neurology, 2022, v. 37, n. 10/11, p. 797, doi. 10.1177/08830738221089740
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- Publication type:
- Article
Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives.
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- Genes, 2022, v. 13, n. 9, p. 1660, doi. 10.3390/genes13091660
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- Article
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.2001
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- Publication type:
- Article
Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 5, p. 575, doi. 10.3390/brainsci12050575
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- Article
Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1029, doi. 10.1002/ajmg.a.62601
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- Article
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 858, doi. 10.1002/ajmg.a.62594
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- Publication type:
- Article
Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies.
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- 2022
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- Publication type:
- journal article
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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- Brain Sciences (2076-3425), 2022, v. 12, n. 3, p. 314, doi. 10.3390/brainsci12030314
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- Publication type:
- Article
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
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- Human Molecular Genetics, 2022, v. 31, n. 4, p. 625, doi. 10.1093/hmg/ddab280
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- Publication type:
- Article
Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.
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- Cerebellum, 2022, v. 21, n. 1, p. 86, doi. 10.1007/s12311-021-01262-7
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- Publication type:
- Article
Correction to: Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.
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- 2022
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- Correction Notice
The CD22-IGF2R interaction is a therapeutic target for microglial lysosome dysfunction in Niemann-Pick type C.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 622, p. 1, doi. 10.1126/scitranslmed.abg2919
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- Article
International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study.
- Published in:
- 2021
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- Publication type:
- journal article
Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.
- Published in:
- Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09398-7
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- Publication type:
- Article
Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study.
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- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.757825
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- Article
Symptoms of Autism Spectrum Disorder in Individuals with Down Syndrome.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 10, p. 1278, doi. 10.3390/brainsci11101278
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- Article
Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community‐Based Cohort.
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- Movement Disorders, 2021, v. 36, n. 10, p. 2378, doi. 10.1002/mds.28683
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- Publication type:
- Article
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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- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.727085
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- Publication type:
- Article
The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities.
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- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.718485
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- Publication type:
- Article
Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.
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- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-020-00411-9
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- Publication type:
- Article
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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- Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09361-6
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- Publication type:
- Article
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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- Cerebellum, 2021, v. 20, n. 2, p. 212, doi. 10.1007/s12311-020-01199-3
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- Publication type:
- Article
A Unique Visual Attention Profile Associated With the FMR1 Premutation.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.591211
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- Publication type:
- Article
Reduced Expression of Cerebral Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 12, p. 899, doi. 10.3390/brainsci10120899
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- Publication type:
- Article
Development of Neural Response to Novel Sounds in Fragile X Syndrome: Potential Biomarkers.
- Published in:
- 2020
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- Publication type:
- journal article
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
- Published in:
- 2020
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- Publication type:
- journal article
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 10, p. 694, doi. 10.3390/brainsci10100694
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- Publication type:
- Article
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.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 7, p. 810, doi. 10.1002/mdc3.13045
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- Publication type:
- Article
Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome.
- Published in:
- Nutrients, 2020, v. 12, n. 10, p. 3136, doi. 10.3390/nu12103136
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- Publication type:
- Article
Response to Placebo in Fragile X Syndrome Clinical Trials: An Initial Analysis.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 9, p. 629, doi. 10.3390/brainsci10090629
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- Publication type:
- Article
Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2.
- Published in:
- Journal of Autism & Developmental Disorders, 2020, v. 50, n. 9, p. 3276, doi. 10.1007/s10803-019-04148-0
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- Publication type:
- Article
Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 8, p. 1383, doi. 10.1002/aur.2299
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- Publication type:
- Article
Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.
- Published in:
- 2020
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- Publication type:
- journal article