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Investigation of amygdala volume in men with the fragile X premutation.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Microglial cell activation and senescence are characteristic of the pathology FXTAS.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Two FMR1 premutation cases without nuclear inclusions.
- Published in:
- 2017
- By:
- Publication type:
- case study
Iron accumulation and dysregulation in the putamen in fragile X-associated tremor/ataxia syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
FMR1 gray-zone alleles: Association with Parkinson's disease in women?
- Published in:
- Movement Disorders, 2011, v. 26, n. 10, p. 1900, doi. 10.1002/mds.23755
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- Publication type:
- Article
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Progression of tremor and ataxia in male carriers of the FMR1 premutation.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome.
- Published in:
- Movement Disorders, 2006, v. 21, n. 10, p. 1741, doi. 10.1002/mds.21001
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- Publication type:
- Article
Screen for expanded FMR1 alleles in patients with essential tremor.
- Published in:
- Movement Disorders, 2004, v. 19, n. 8, p. 930, doi. 10.1002/mds.20043
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- Publication type:
- Article
Tremor/Ataxia syndrome in fragile X carrier males.
- Published in:
- Movement Disorders, 2002, v. 17, n. 4, p. 744, doi. 10.1002/mds.10208
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- Publication type:
- Article
Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population.
- Published in:
- Human Genetics, 2003, v. 113, n. 5, p. 371, doi. 10.1007/s00439-003-0982-9
- By:
- 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
Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 14, p. 1920, doi. 10.3390/cells12141920
- By:
- Publication type:
- Article
X Inactivation and Cellular Mosaicism.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Genetic Counseling for Families of Patients With Fragile X Syndrome.
- Published in:
- 2004
- By:
- Publication type:
- Abstract
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
Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model:.
- Published in:
- Journal of Neurochemistry, 2012, v. 123, n. 4, p. 613, doi. 10.1111/j.1471-4159.2012.07936.x
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- Publication type:
- Article
Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity.
- Published in:
- International Journal of Developmental Neuroscience, 2023, v. 83, n. 8, p. 715, doi. 10.1002/jdn.10299
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- Publication type:
- Article
Expression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 18, p. 4945, doi. 10.1093/hmg/ddu210
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- Publication type:
- Article
CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 12, p. 3228, doi. 10.1093/hmg/ddu032
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- Publication type:
- Article
Signaling defects in iPSC-derived fragile X premutation neurons.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3795, doi. 10.1093/hmg/dds207
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- Publication type:
- Article
Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 13, p. 2923, doi. 10.1093/hmg/dds118
- By:
- Publication type:
- Article
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 15, p. 3079, doi. 10.1093/hmg/ddr211
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- Publication type:
- Article
CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 11, p. 2161, doi. 10.1093/hmg/ddr101
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- Publication type:
- Article
Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 1, p. 64, doi. 10.1093/hmg/ddq432
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- Publication type:
- Article
Advances in understanding the molecular basis of FXTAS.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. R1, p. R83, doi. 10.1093/hmg/ddq166
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- Publication type:
- Article
Fibroblast phenotype in male carriers of FMR1 premutation alleles.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 2, p. 299, doi. 10.1093/hmg/ddp497
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- Publication type:
- Article
Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 1, p. 196, doi. 10.1093/hmg/ddp479
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- Publication type:
- Article
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3661, doi. 10.1093/hmg/ddi394
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- Publication type:
- Article
Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 5, p. 543, doi. 10.1093/hmg/ddh053
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- Publication type:
- Article
The (CGG)n repeat element within the 5′ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 23, p. 3067, doi. 10.1093/hmg/ddg331
- By:
- Publication type:
- Article
Incomplete Financial Disclosure in a Commentary on Testing for Fragile X Gene Mutations Throughout the Life Span.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Testing for Fragile X Gene Mutations Throughout the Life Span.
- Published in:
- 2008
- By:
- Publication type:
- Editorial
Phenotypes of hypofrontality in older female fragile X premutation carriers.
- Published in:
- Annals of Neurology, 2013, v. 74, n. 2, p. 275, doi. 10.1002/ana.23933
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- Publication type:
- Article
The Fragile X Family of Disorders: A Model for Autism and Targeted Treatments.
- Published in:
- Current Pediatric Reviews, 2008, v. 4, n. 1, p. 40, doi. 10.2174/157339608783565770
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- Publication type:
- Article
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 1, p. 1, doi. 10.1007/s00401-013-1138-1
- By:
- Publication type:
- Article
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
- Published in:
- Acta Neuropathologica, 2011, v. 122, n. 4, p. 467, doi. 10.1007/s00401-011-0860-9
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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
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- Publication type:
- Article
Clinical and molecular implications of mosaicism in FMR1 full mutations.
- Published in:
- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00318
- By:
- Publication type:
- Article
Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 356, doi. 10.3390/genes15030356
- By:
- Publication type:
- Article
Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 331, doi. 10.3390/genes15030331
- By:
- Publication type:
- Article
Reduced Hippocampal Activation During Recall is Associated with Elevated FMR1 mRNA and Psychiatric Symptoms in Men with the Fragile X Premutation.
- Published in:
- Brain Imaging & Behavior, 2008, v. 2, n. 2, p. 105, doi. 10.1007/s11682-008-9020-9
- By:
- Publication type:
- Article
Transcription-Associated R-Loop Formation across the Human <i>FMR1</i> CGG-Repeat Region.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004294
- By:
- Publication type:
- Article
Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study.
- Published in:
- Neuropsychopharmacology, 2014, v. 39, n. 12, p. 2760, doi. 10.1038/npp.2014.122
- By:
- Publication type:
- Article
Fragile X syndrome and connective tissue dysregulation.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 262, doi. 10.1111/cge.13469
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
The Mitochondrial Genome of Acropora tenuis (Cnidaria; Scleractinia) Contains a Large Group I Intron and a Candidate Control Region.
- Published in:
- Journal of Molecular Evolution, 2002, v. 55, n. 1, p. 1, doi. 10.1007/s00239-001-0075-0
- By:
- Publication type:
- Article
Sequence-directed curvature of DNA.
- Published in:
- Nature, 1986, v. 321, n. 6068, p. 449, doi. 10.1038/321449a0
- By:
- Publication type:
- Article