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Investigation of amygdala volume in men with the fragile X premutation.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Fragile X-associated tremor/ataxia syndrome.
- Published in:
- Annals of the New York Academy of Sciences, 2015, v. 1338, n. 1, p. 58, doi. 10.1111/nyas.12693
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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
Women with Fragile X–associated Tremor/Ataxia Syndrome.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 910, doi. 10.1002/mdc3.13084
- By:
- 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
Placebo Response in Fragile X‐associated Tremor/Ataxia Syndrome.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 3, p. 298, doi. 10.1002/mdc3.12919
- By:
- Publication type:
- Article
Clinimetric Properties of the Fragile X‐associated Tremor Ataxia Syndrome Rating Scale.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 2, p. 120, doi. 10.1002/mdc3.12708
- By:
- 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
- By:
- Publication type:
- Article
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population.
- Published in:
- JAMA: Journal of the American Medical Association, 2004, v. 291, n. 4, p. 460, doi. 10.1001/jama.291.4.460
- By:
- 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
Neurodevelopmental Disabilities in Children With Intermediate and Premutation Range Fragile X Cytosine-Guanine-Guanine Expansions.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 3, p. 326, doi. 10.1177/0883073812469723
- By:
- Publication type:
- Article
Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers.
- Published in:
- Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2016.00071
- By:
- Publication type:
- Article
Molecular analyses of neurogenic defects in a human pluripotent stem cell model of fragile X syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Fragile X Syndrome: From Molecular Aspect to Clinical Treatment.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 1935, doi. 10.3390/ijms23041935
- By:
- Publication type:
- Article
Brain Atrophy and White Matter Damage Linked to Peripheral Bioenergetic Deficits in the Neurodegenerative Disease FXTAS.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9171, doi. 10.3390/ijms22179171
- By:
- 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
- By:
- Publication type:
- Article
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4391, doi. 10.3390/ijms21124391
- By:
- Publication type:
- Article
Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India.
- Published in:
- Indian Pediatrics, 2019, v. 56, n. 3, p. 221, doi. 10.1007/s13312-019-1504-8
- By:
- Publication type:
- Article
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 12, p. 4314, doi. 10.1172/JCI63141
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- Publication type:
- Article
Plasma metabolic profile delineates roles for neurodegeneration, pro-inflammatory damage and mitochondrial dysfunction in the FMR1 premutation.
- Published in:
- Biochemical Journal, 2016, v. 473, n. 21, p. 3871, doi. 10.1042/BCJ20160585
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- Publication type:
- Article
Family and Caregiver Characteristics Contribute to Caregiver Change in Use of Strategies and Growth in Child Spoken Language in a Parent-Implemented Language Intervention in Fragile X Syndrome.
- Published in:
- Perspectives of the ASHA Special Interest Groups, 2022, v. 7, p. 1630, doi. 10.1044/2022_PERSP-22-00016
- By:
- Publication type:
- Article
Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome.
- Published in:
- Cerebellum, 2016, v. 15, n. 5, p. 552, doi. 10.1007/s12311-016-0779-8
- By:
- Publication type:
- Article
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
- Published in:
- Cerebellum, 2016, v. 15, n. 5, p. 578, doi. 10.1007/s12311-016-0799-4
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- Publication type:
- Article
Aging in Fragile X Premutation Carriers.
- Published in:
- Cerebellum, 2016, v. 15, n. 5, p. 587, doi. 10.1007/s12311-016-0805-x
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- Publication type:
- Article
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 8, p. 1, doi. 10.1002/mgg3.2001
- By:
- Publication type:
- Article
Developmental aspects of FXAND in a man with the FMR1 premutation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1050
- By:
- Publication type:
- Article
Maturation Delay of Human GABAergic Neurogenesis in Fragile X Syndrome Pluripotent Stem Cells.
- Published in:
- Stem Cells Translational Medicine, 2022, v. 11, n. 6, p. 613, doi. 10.1093/stcltm/szac022
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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
Clinical implications of somatic allele expansion in female FMR1 premutation carriers.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-33528-x
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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
- By:
- Publication type:
- Article
Corrigendum: EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
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
- By:
- Publication type:
- Article
EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.716707
- By:
- Publication type:
- Article
Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 8, p. 553, doi. 10.1038/jhg.2013.50
- By:
- Publication type:
- Article
Fragile X Premutation: Medications, Therapy and Lifestyle Advice.
- Published in:
- Pharmacogenomics & Personalized Medicine, 2021, v. 14, p. 1689, doi. 10.2147/PGPM.S338846
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- Publication type:
- Article
Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome.
- Published in:
- Science Signaling, 2016, v. 9, n. 431, p. 1, doi. 10.1126/scisignal.aaf6060
- By:
- Publication type:
- Article
Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 8, p. 1139, doi. 10.1002/ajmg.b.32496
- By:
- 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
- By:
- Publication type:
- Article
Clinicians' Experiences with the Fragile X Clinical and Research Consortium.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3138, doi. 10.1002/ajmg.a.37948
- By:
- Publication type:
- Article
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2154, doi. 10.1002/ajmg.a.37125
- By:
- Publication type:
- Article
Methadone use in a male with the FMRI premutation and FXTAS.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1354, doi. 10.1002/ajmg.a.37030
- By:
- Publication type:
- Article
Immune mediated disorders in women with a fragile X expansion and FXTAS.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 190, doi. 10.1002/ajmg.a.36748
- By:
- Publication type:
- Article
Association between macroorchidism and intelligence in FMR1 premutation carriers.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2206, doi. 10.1002/ajmg.a.36624
- By:
- Publication type:
- Article
High MMP-9 activity levels in fragile X syndrome are lowered by minocycline.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1897, doi. 10.1002/ajmg.a.36023
- By:
- Publication type:
- Article
Newborn screening and cascade testing for FMR1 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 59, doi. 10.1002/ajmg.a.35680
- By:
- Publication type:
- Article
Immune-mediated disorders among women carriers of fragile X premutation alleles.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2473, doi. 10.1002/ajmg.a.35569
- By:
- Publication type:
- Article
Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS).
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1304, doi. 10.1002/ajmg.a.35323
- By:
- Publication type:
- Article
A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1221, doi. 10.1002/ajmg.a.35293
- By:
- Publication type:
- Article
Reduced telomere length in individuals with FMR1 premutations and full mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1060, doi. 10.1002/ajmg.a.35275
- By:
- 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
- By:
- Publication type:
- Article