subject area of

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