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Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8103, doi. 10.3390/ijms25158103
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- Article
Longitudinal follow-up of metformin treatment in Fragile X Syndrome.
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- Frontiers in Psychology, 2024, p. 1, doi. 10.3389/fpsyg.2024.1305597
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- Publication type:
- Article
FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea.
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- Reproductive Biology & Endocrinology, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12958-024-01227-5
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- Publication type:
- Article
Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1401286
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- Publication type:
- Article
Mitochondrial dysfunction in brain tissues and Extracellular Vesicles Fragile X‐associated tremor/ataxia syndrome.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1420, doi. 10.1002/acn3.52040
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- Publication type:
- Article
Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome.
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- Metabolomics, 2024, v. 20, n. 2, p. 1, doi. 10.1007/s11306-024-02088-0
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- Article
Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome.
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- Genes, 2024, v. 15, n. 3, p. 331, doi. 10.3390/genes15030331
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- Article
Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome.
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- Genes, 2024, v. 15, n. 3, p. 356, doi. 10.3390/genes15030356
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- Publication type:
- Article
FMR1 Carriers Report Executive Function Changes Prior to Fragile X‐Associated Tremor/Ataxia Syndrome: A Longitudinal Study.
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- Movement Disorders, 2024, v. 39, n. 3, p. 519, doi. 10.1002/mds.29695
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- Article
Case Series: Vestibular Migraines in Fragile X Premutation Carriers.
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- Journal of Clinical Medicine, 2024, v. 13, n. 2, p. 504, doi. 10.3390/jcm13020504
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- Publication type:
- Article
Open-Label Sulforaphane Trial in FMR1 Premutation Carriers with Fragile-X-Associated Tremor and Ataxia Syndrome (FXTAS).
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 24, p. 2773, doi. 10.3390/cells12242773
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- Publication type:
- Article
Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity.
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- International Journal of Developmental Neuroscience, 2023, v. 83, n. 8, p. 715, doi. 10.1002/jdn.10299
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- Publication type:
- Article
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
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- Cells (2073-4409), 2023, v. 12, n. 18, p. 2330, doi. 10.3390/cells12182330
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- Publication type:
- Article
Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
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- Cells (2073-4409), 2023, v. 12, n. 17, p. 2132, doi. 10.3390/cells12172132
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- Publication type:
- Article
Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 17, p. 13477, doi. 10.3390/ijms241713477
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- Publication type:
- Article
Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome.
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- Cells (2073-4409), 2023, v. 12, n. 14, p. 1920, doi. 10.3390/cells12141920
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- Publication type:
- Article
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation.
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- Cells (2073-4409), 2023, v. 12, n. 13, p. 1711, doi. 10.3390/cells12131711
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- Publication type:
- Article
Clinical implications of somatic allele expansion in female FMR1 premutation carriers.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-33528-x
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- Publication type:
- Article
Structure and Alternative Splicing of the Antisense FMR1 (ASFMR1) Gene.
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- Molecular Neurobiology, 2023, v. 60, n. 4, p. 2051, doi. 10.1007/s12035-022-03176-9
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- Publication type:
- Article
Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment.
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- Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09475-z
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- Publication type:
- Article
Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers.
- Published in:
- Genes, 2022, v. 13, n. 12, p. 2399, doi. 10.3390/genes13122399
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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).
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- 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
Profiling Genome-Wide DNA Methylation in Children with Autism Spectrum Disorder and in Children with Fragile X Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101795
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- Publication type:
- Article
Differential Methylation Profile in Fragile X Syndrome-Prone Offspring Mice after in Utero Exposure to Lactobacillus Reuteri.
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- Genes, 2022, v. 13, n. 8, p. 1300, doi. 10.3390/genes13081300
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- Publication type:
- Article
Maternal Microbiota Modulate a Fragile X-like Syndrome in Offspring Mice.
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- Genes, 2022, v. 13, n. 8, p. 1409, doi. 10.3390/genes13081409
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- Publication type:
- Article
Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14183-0
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- Publication type:
- Article
De Novo Large Deletion Leading to Fragile X Syndrome.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.884424
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- Publication type:
- Article
Prosaccade and Antisaccade Behavior in Fragile X‐Associated Tremor/Ataxia Syndrome Progression.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 4, p. 473, doi. 10.1002/mdc3.13449
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- Publication type:
- Article
Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome.
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- Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09436-y
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- Publication type:
- Article
Corrigendum: EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome.
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- 2022
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- Correction Notice
Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.797649
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- Publication type:
- Article
Increased Pain Symptomatology Among Females vs. Males With Fragile X-Associated Tremor/Ataxia Syndrome.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2021.762915
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- Publication type:
- Article
EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome.
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- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.716707
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- Publication type:
- Article
FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability.
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- Diagnostics (2075-4418), 2021, v. 11, n. 10, p. 1780, doi. 10.3390/diagnostics11101780
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- Publication type:
- Article
Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.720253
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- Publication type:
- Article
Metabolomic Biomarkers Are Associated With Area of the Pons in Fragile X Premutation Carriers at Risk for Developing FXTAS.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.691717
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- Publication type:
- Article
Cerebral Microbleeds in Fragile X–Associated Tremor/Ataxia Syndrome.
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- Movement Disorders, 2021, v. 36, n. 8, p. 1935, doi. 10.1002/mds.28559
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- Publication type:
- Article
Inequities in diagnosis of Fragile X syndrome in Colombia.
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- Journal of Applied Research in Intellectual Disabilities, 2021, v. 34, n. 3, p. 830, doi. 10.1111/jar.12863
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- Article
'Essential Tremor' Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers.
- Published in:
- 2021
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- Publication type:
- journal article
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1030, doi. 10.1002/ajmg.c.31871
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- Publication type:
- Article
Metabolic profiling reveals dysregulated lipid metabolism and potential biomarkers associated with the development and progression of Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS).
- Published in:
- FASEB Journal, 2020, v. 34, n. 12, p. 16676, doi. 10.1096/fj.202001880R
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- Publication type:
- Article
Women with Fragile X–associated Tremor/Ataxia Syndrome.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 910, doi. 10.1002/mdc3.13084
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- Publication type:
- Article
Urine-Derived Epithelial Cell Lines: A New Tool to Model Fragile X Syndrome (FXS).
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- Cells (2073-4409), 2020, v. 9, n. 10, p. 2240, doi. 10.3390/cells9102240
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- Publication type:
- Article
Cortical gyrification and its relationships with molecular measures and cognition in children with the FMR1 premutation.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73040-0
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- Publication type:
- Article
FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS).
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67946-y
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- Publication type:
- Article
Elevated FMR1-mRNA and lowered FMRP – A double-hit mechanism for psychiatric features in men with FMR1 premutations.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-00863-w
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- Publication type:
- Article
Blood-Based Biomarkers Predictive of Metformin Target Engagement in Fragile X Syndrome.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 6, p. 361, doi. 10.3390/brainsci10060361
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- Publication type:
- Article
Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X–Associated Tremor/Ataxia Syndrome.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 4, p. 413, doi. 10.1002/mdc3.12942
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- Publication type:
- Article
Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome.
- Published in:
- Journal of Neurodevelopmental Disorders, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s11689-020-09315-4
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- Publication type:
- Article
Molecular Biomarkers Predictive of Sertraline Treatment Response in Young Children With Autism Spectrum Disorder.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00308
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- Publication type:
- Article