Trinucleotide Repeat Expansion
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A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations Academic Article
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A family with two female siblings with compound heterozygousFMR1premutation alleles Academic Article
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A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes Academic Article
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A neuropsychological investigation of male premutation carriers of fragile X syndrome Academic Article
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AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome Academic Article
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Abnormal elevation ofFMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation Academic Article
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Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation Academic Article
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Advanced technologies for the molecular diagnosis of fragile X syndrome Academic Article
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Age- and CGG repeat-related slowing of manual movement in fragile X carriers: A prodrome of fragile X-associated tremor ataxia syndrome? Academic Article
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Altered expression of the FMR1 splicing variants landscape in premutation carriers Academic Article
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Altered neural activity in the ‘when’ pathway during temporal processing in fragile X premutation carriers Academic Article
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Altered neural activity of magnitude estimation processing in adults with the fragile X premutation Academic Article
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An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene Academic Article
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Association between macroorchidism and intelligence inFMR1premutation carriers Academic Article
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Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis Academic Article
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CGG allele size somatic mosaicism and methylation inFMR1premutation alleles Academic Article
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CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS) Academic Article
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CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS Academic Article
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CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size Academic Article
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Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series Academic Article
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Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone Academic Article
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Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Academic Article
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Cognitive-motor interference during postural control indicates at-risk cerebellar profiles in females with the FMR1 premutation Academic Article
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Disease-associated short tandem repeats co-localize with chromatin domain boundaries Academic Article
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Early mitochondrial abnormalities in hippocampal neurons cultured fromFmr1pre-mutation mouse model Academic Article
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Elevated FMR1 mRNA in premutation carriers is due to increased transcription Academic Article
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Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome Academic Article
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Enhanced asynchronous Ca2⁺ oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion Academic Article
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Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females Academic Article
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Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism Academic Article
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Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond Academic Article
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Expanded clinical phenotype of women with theFMR1 premutation Academic Article
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Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations Academic Article
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Expression of the FMR1 gene Academic Article
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Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS Academic Article
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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers Academic Article
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FMR1 Intron 1 Methylation Predicts FMRP Expression in Blood of Female Carriers of Expanded FMR1 Alleles Academic Article
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FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients Academic Article
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FMR1 gray-zone alleles: Association with Parkinson's disease in women? Academic Article
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FMR1 premutation in females diagnosed with multiple sclerosis Academic Article
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FXN methylation predicts expression and clinical outcome in Friedreich ataxia Academic Article
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FindingFMR1mosaicism in Fragile X syndrome Academic Article
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Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles Academic Article
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Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels ofFMR1 messenger RNA Academic Article
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Fragile X–associated tremor/ataxia syndrome Academic Article
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Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study Academic Article
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Genetic cluster of fragile X syndrome in a Colombian district Academic Article
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Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome Academic Article
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High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome Academic Article
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Identification of Expanded Alleles of the FMR1 Gene Among High-Risk Population in Indonesia by Using Blood Spot Screening Academic Article
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Identification of expanded alleles of the FMR1 gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study Academic Article
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Immune Dysregulation as a Cause of Autoinflammation in Fragile X Premutation Carriers: Link between FMRI CGG Repeat Number and Decreased Cytokine Responses Academic Article
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Immune mediated disorders in women with a fragile X expansion and FXTAS Academic Article
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Immune-mediated disorders among women carriers of fragile X premutation alleles Academic Article
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Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers Academic Article
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Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder Academic Article
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Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia Academic Article
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Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells Academic Article
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Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome Academic Article
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Investigation of amygdala volume in men with the fragile X premutation Academic Article
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Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms Academic Article
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Magnetic resonance imaging study in older fragile X premutation male carriers Academic Article
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Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration Academic Article
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Neuropathic features in fragile X premutation carriers Academic Article
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Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS) Academic Article
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New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease Academic Article
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Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women Academic Article
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Polymerase Chain Reaction, Nuclease Digestion, and Mass Spectrometry Based Assay for the Trinucleotide Repeat Status of the Fragile X Mental Retardation 1 Gene Academic Article
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Prevalence and risk of migraine headaches in adult fragile X premutation carriers Academic Article
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Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion Academic Article
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Rare Intranuclear Inclusions in the Brains of 3 Older Adult Males With Fragile X Syndrome: Implications for the Spectrum of Fragile X-Associated Disorders Academic Article
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Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element Academic Article
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Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations Academic Article
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Screen for expandedFMR1 alleles in patients with essential tremor Academic Article
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Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population Academic Article
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Selective executive markers of at-risk profiles associated with the fragile X premutation Academic Article
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Selective spatial processing deficits in an at-risk subgroup of the fragile X premutation Academic Article
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Selective subcortical contributions to gait impairments in males with theFMR1premutation Letter
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Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene Academic Article
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Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-Associated tremor/ataxia syndrome Academic Article
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Sindrome de X Fragil Academic Article
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Size and methylation mosaicism in males with Fragile X syndrome Academic Article
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Sleep apnea in fragile X premutation carriers with and without FXTAS Academic Article
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Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism Academic Article
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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 Academic Article
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The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome Academic Article
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The Fragile X-Associated Tremor Ataxia Syndrome Academic Article
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The Role of AGG Interruptions in the Transcription of FMR1 Premutation Alleles Academic Article
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Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats Academic Article
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Transcription of the FMR1 gene in individuals with fragile X syndrome Academic Article
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Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome Academic Article
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Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions Academic Article
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Unstable mutations in the FMR1 gene and the phenotypes. Academic Article
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Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS) Academic Article
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White Matter Changes in Patients with Parkinson's Disease Carrying Small CGG Expansion FMR1 Alleles: A Pilot Study Academic Article
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White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism Academic Article