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Longitudinal follow-up of metformin treatment in Fragile X Syndrome.
- Published in:
- Frontiers in Psychology, 2024, p. 1, doi. 10.3389/fpsyg.2024.1305597
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- Publication type:
- Article
FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration.
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- Annals of Neurology, 2024, v. 95, n. 3, p. 558, doi. 10.1002/ana.26851
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- Publication type:
- 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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- Publication type:
- 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
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
Neurodegeneration of White and Gray Matter in the Hippocampus with FXTAS.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17266, doi. 10.3390/ijms242417266
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- Article
Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.
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- Journal of Autism & Developmental Disorders, 2023, v. 53, n. 11, p. 4465, doi. 10.1007/s10803-022-05707-8
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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
A Postmortem MRI Study of Cerebrovascular Disease and Iron Content at End-Stage of Fragile X-Associated Tremor/Ataxia Syndrome.
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- Cells (2073-4409), 2023, v. 12, n. 14, p. 1898, doi. 10.3390/cells12141898
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- Publication type:
- Article
Síndrome de X Frágil en niños.
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- Colombia Medica, 2023, v. 54, n. 2, p. 1, doi. 10.25100/cm.v54i2.5089
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- Publication type:
- Article
Artificial neural network applied to fragile X-associated tremor/ataxia syndrome stage diagnosis based on peripheral mitochondrial bioenergetics and brain imaging outcomes.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-25615-2
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- Publication type:
- Article
Tophaceous gout of the nose in a male FMR1 premutation carrier.
- Published in:
- 2022
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- Publication type:
- Case Study
Fragile X-associated tremor ataxia syndrome rating scale: Revision and content validity using a mixed method approach.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.977380
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- Publication type:
- Article
Case Reports of Aortic Aneurism in Fragile X Syndrome.
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- Genes, 2022, v. 13, n. 9, p. 1560, doi. 10.3390/genes13091560
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- Publication type:
- Article
Maturation Delay of Human GABAergic Neurogenesis in Fragile X Syndrome Pluripotent Stem Cells.
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- Stem Cells Translational Medicine, 2022, v. 11, n. 6, p. 613, doi. 10.1093/stcltm/szac022
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- Publication type:
- Article
Prosaccade and Antisaccade Behavior in Fragile X‐Associated Tremor/Ataxia Syndrome Progression.
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- 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
Fragile X Syndrome: From Molecular Aspect to Clinical Treatment.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 1935, doi. 10.3390/ijms23041935
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- Publication type:
- Article
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.
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- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2021.762915
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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
Brain Atrophy and White Matter Damage Linked to Peripheral Bioenergetic Deficits in the Neurodegenerative Disease FXTAS.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9171, doi. 10.3390/ijms22179171
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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
Fragile X premutation and associated health conditions: A review.
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- Clinical Genetics, 2021, v. 99, n. 6, p. 751, doi. 10.1111/cge.13924
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- Publication type:
- Article
Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-Linked FMR1 Gene.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5886, doi. 10.3390/ijms22115886
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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
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4391, doi. 10.3390/ijms21124391
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- Publication type:
- Article
Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series.
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- Biomedicines, 2020, v. 8, n. 5, p. 136, doi. 10.3390/biomedicines8050136
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- Publication type:
- Article
Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease.
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- Clinical Interventions in Aging, 2020, v. 15, p. 285, doi. 10.2147/CIA.S240314
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- Publication type:
- Article
Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions.
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- PLoS ONE, 2019, v. 14, n. 12, p. N.PAG, doi. 10.1371/journal.pone.0226811
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- Article
A Randomized Controlled Trial of Sertraline in Young Children With Autism Spectrum Disorder.
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- Frontiers in Psychiatry, 2019, v. 10, p. 1, doi. 10.3389/fpsyt.2019.00810
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- Publication type:
- Article
New Targeted Treatments for Fragile X Syndrome.
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- Current Pediatric Reviews, 2019, v. 15, n. 4, p. 251, doi. 10.2174/1573396315666190625110748
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- Publication type:
- Article
Metformin treatment in young children with fragile X syndrome.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.956
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- Publication type:
- Article
Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome.
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- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0796-1
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- Publication type:
- Article
Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin‐two cases.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.745
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- Publication type:
- Article
Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in Fragile X-Associated Tremor/Ataxia Syndrome: a Pilot Study.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 5, p. 3702, doi. 10.1007/s12035-018-1330-3
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- Publication type:
- Article
Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia.
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- International Journal of Developmental Neuroscience, 2019, v. 72, p. 1, doi. 10.1016/j.ijdevneu.2018.10.002
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- Publication type:
- Article
Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome.
- Published in:
- PLoS ONE, 2019, v. 14, n. 1, p. 1, doi. 10.1371/journal.pone.0209984
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- Publication type:
- Article
Best Practices in Fragile X Syndrome Treatment Development.
- Published in:
- Brain Sciences (2076-3425), 2018, v. 8, n. 12, p. 224, doi. 10.3390/brainsci8120224
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- Publication type:
- Article
Fragile X-Associated Neuropsychiatric Disorders (FXAND).
- Published in:
- Frontiers in Psychiatry, 2018, p. N.PAG, doi. 10.3389/fpsyt.2018.00564
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- Publication type:
- Article
Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00695
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- Publication type:
- Article
Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS?
- Published in:
- Frontiers in Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnins.2018.00379
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- Publication type:
- Article
Fragile X-Associated Tremor/Ataxia Syndrome: Unmet Needs and a Path for the Future.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00100
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- Publication type:
- Article
Rare FMR1 gene mutations causing fragile X syndrome: A review.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 11, doi. 10.1002/ajmg.a.38504
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- Publication type:
- Article
Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?
- Published in:
- Frontiers in Genetics, 2017, p. 1, doi. 10.3389/fgene.2017.00158
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- Publication type:
- Article
Autism Symptoms in Fragile X Syndrome.
- Published in:
- Journal of Child Neurology, 2017, v. 32, n. 10, p. 903, doi. 10.1177/0883073817712875
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- Publication type:
- Article
Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases.
- Published in:
- 2017
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- Publication type:
- Case Study
The Gut Microbiota and Autism Spectrum Disorders.
- Published in:
- Frontiers in Cellular Neuroscience, 2017, v. 11, p. 1, doi. 10.3389/fncel.2017.00120
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- Publication type:
- Article
Molecular analyses of neurogenic defects in a human pluripotent stem cell model of fragile X syndrome.
- Published in:
- 2017
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- Publication type:
- journal article