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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
- By:
- Publication type:
- Article
A cerebellar tremor/ataxia syndrome among fragile X premutation carriers.
- Published in:
- Cytogenetic & Genome Research, 2003, v. 100, n. 1-4, p. 206, doi. 10.1159/000072856
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- 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
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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
Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0796-1
- By:
- Publication type:
- Article
Functional status of men with the fragile X premutation, with and without the tremor/ataxia syndrome (FXTAS).
- Published in:
- International Journal of Geriatric Psychiatry, 2009, v. 24, n. 10, p. 1101, doi. 10.1002/gps.2231
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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
Tremor and ataxia in fragile X premutation carriers: Blinded videotape study.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 5, p. 616
- By:
- Publication type:
- 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
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
- 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
The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 12, p. 2672, doi. 10.1093/brain/awh256
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- Publication type:
- Article
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients.
- Published in:
- EMBO Journal, 2010, v. 29, n. 7, p. 1248, doi. 10.1038/emboj.2010.21
- By:
- Publication type:
- Article
FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 5, p. 625, doi. 10.1002/ccr3.834
- By:
- Publication type:
- Article
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0677-7
- 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
- By:
- 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
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- Publication type:
- Article
FMR1 premutation and full mutation molecular mechanisms related to autism.
- Published in:
- Journal of Neurodevelopmental Disorders, 2011, v. 3, n. 3, p. 211, doi. 10.1007/s11689-011-9084-5
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- Publication type:
- Article
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
- 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
- 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
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
Origins of Epilepsy in Fragile X Syndrome.
- Published in:
- Epilepsy Currents, 2009, v. 9, n. 4, p. 108, doi. 10.1111/j.1535-7511.2009.01309.x
- By:
- Publication type:
- Article
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
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- 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
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- 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
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- 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
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- Publication type:
- Article
Covariate Adjusted Correlation Analysis with Application to FMR1 Premutation Female Carrier Data.
- Published in:
- Biometrics, 2009, v. 65, n. 3, p. 781, doi. 10.1111/j.1541-0420.2008.01169.x
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- Publication type:
- Article
Hispano‐American Brain Bank on Neurodevelopmental Disorders: An initiative to promote brain banking, research, education, and outreach in the field of neurodevelopmental disorders.
- Published in:
- Brain Pathology, 2022, v. 32, n. 2, p. 1, doi. 10.1111/bpa.13019
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- 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
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- Publication type:
- Article
Single-locus enrichment without amplification for sequencing and direct detection of epigenetic modifications.
- Published in:
- Molecular Genetics & Genomics, 2016, v. 291, n. 3, p. 1491, doi. 10.1007/s00438-016-1167-2
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- Publication type:
- Article
Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome.
- Published in:
- Molecular Autism, 2011, v. 2, n. 1, p. 1, doi. 10.1186/2040-2392-2-2
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- Publication type:
- Article
Fragile X and autism: Intertwined at the molecular level leading to targeted treatments.
- Published in:
- Molecular Autism, 2010, v. 1, n. 1, p. 1, doi. 10.1186/2040-2392-1-12
- By:
- Publication type:
- Article
Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions.
- Published in:
- PLoS ONE, 2019, v. 14, n. 12, p. N.PAG, doi. 10.1371/journal.pone.0226811
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- Publication type:
- Article
Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 14, p. 2649, doi. 10.1093/hmg/ddx148
- By:
- Publication type:
- Article
Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4948, doi. 10.1093/hmg/ddv216
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article