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Investigation of amygdala volume in men with the fragile X premutation.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Specific EEG resting state biomarkers in FXS and ASD.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09570-9
- By:
- Publication type:
- Article
Altered Redox Mitochondrial Biology in the Neurodegenerative Disorder Fragile X-Tremor/Ataxia Syndrome: Use of Antioxidants in Precision Medicine.
- Published in:
- Molecular Medicine, 2016, v. 22, n. 1, p. 548, doi. 10.2119/molmed.2016.00122
- By:
- Publication type:
- Article
Altered Redox Mitochondrial Biology in the Neurodegenerative Disorder Fragile X-Tremor/Ataxia Syndrome: Use of Antioxidants in Precision Medicine.
- Published in:
- Molecular Medicine, 2016, v. 22, p. 548, doi. 10.2119/molmed.2016.00122
- 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
Case report: Dystonia in a fragile X carrier.
- Published in:
- Movement Disorders, 2014, v. 29, n. 7, p. E4, doi. 10.1002/mds.23600
- By:
- Publication type:
- Article
Case Report: Dystonia in a Fragile X Carrier.
- Published in:
- Movement Disorders, 2014, v. 29, p. E4, doi. 10.1002/mds.23600
- By:
- Publication type:
- Article
A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers.
- Published in:
- Movement Disorders, 2013, v. 28, n. 9, p. 1278, doi. 10.1002/mds.25473
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- Publication type:
- Article
Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene.
- Published in:
- Movement Disorders, 2011, v. 26, n. 7, p. 1329, doi. 10.1002/mds.23646
- By:
- Publication type:
- Article
Parkinsonism and cognitive decline in a fragile X mosaic male.
- Published in:
- Movement Disorders, 2010, v. 25, n. 10, p. 1523, doi. 10.1002/mds.23150
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome.
- Published in:
- Human Genetics, 2010, v. 128, n. 5, p. 539, doi. 10.1007/s00439-010-0882-8
- By:
- Publication type:
- Article
Genetics and genomics of neurobehavioral disorders: Gene S. Fisch (Editor), Humana Press, ISBN 1-58829-045-X, hardcover, 428 pages, 125.00 US$.
- Published in:
- 2004
- By:
- Publication type:
- Book Review
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
Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 17, p. 2132, doi. 10.3390/cells12172132
- 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
- By:
- Publication type:
- Article
A Postmortem MRI Study of Cerebrovascular Disease and Iron Content at End-Stage of Fragile X-Associated Tremor/Ataxia Syndrome.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 14, p. 1898, doi. 10.3390/cells12141898
- By:
- Publication type:
- Article
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 13, p. 1711, doi. 10.3390/cells12131711
- 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
Fibromyalgia in fragile X mental retardation 1 gene premutation carriers.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Fibromyalgia in fragile X mental retardation 1 gene premutation carriers.
- Published in:
- Rheumatology, 2011, v. 50, n. 12, p. 2233, doi. 10.1093/rheumatology/ker273
- 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
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
- By:
- Publication type:
- Article
Sentence Comprehension in Boys With Autism Spectrum Disorder.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Sentence Comprehension in Boys With Autism Spectrum Disorder.
- Published in:
- American Journal of Speech-Language Pathology, 2014, v. 23, n. 3, p. 385, doi. 10.1044/2014_AJSLP-13-0073
- 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
Treatment of Neurodevelopmental Disorders in Adulthood.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 41, p. 14074, doi. 10.1523/JNEUROSCI.3287-12.2012
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- Publication type:
- Article
Warburg effect linked to cognitive-executive deficits in FMR1 premutation.
- Published in:
- FASEB Journal, 2016, v. 30, n. 10, p. 3334, doi. 10.1096/fj.201600315R
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- Publication type:
- Article
Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome.
- Published in:
- Journal of Neuroinflammation, 2014, v. 11, n. 1, p. 1, doi. 10.1186/1742-2094-11-110
- By:
- Publication type:
- Article
Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome.
- Published in:
- 2014
- By:
- Publication type:
- journal 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
Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia.
- Published in:
- 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
Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34978-4
- By:
- Publication type:
- Article
Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/280813
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- Publication type:
- Article
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1516, doi. 10.1093/hmg/ddt002
- 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
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1618, doi. 10.1093/hmg/ddq037
- By:
- 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
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- Publication type:
- Article
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 24, p. 3174, doi. 10.1093/hmg/ddm293
- By:
- Publication type:
- Article
Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.
- Published in:
- Journal of Autism & Developmental Disorders, 2023, v. 53, n. 11, p. 4465, doi. 10.1007/s10803-022-05707-8
- By:
- Publication type:
- Article