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X-linked disorders with cerebellar dysgenesisOn the aggregation properties of FMRP--a link with the FXTAS syndrome?Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X geneProteostasis and RNA Binding Proteins in Synaptic Plasticity and in the Pathogenesis of Neuropsychiatric DisordersFragile X spectrum disordersThe multiple molecular facets of fragile X-associated tremor/ataxia syndromeUnstable mutations in the FMR1 gene and the phenotypesPhenobarbital use and neurological problems in FMR1 premutation carriersTranscription-associated R-loop formation across the human FMR1 CGG-repeat regionCGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA GranulesThe role of AGG interruptions in the transcription of FMR1 premutation allelesElevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserveNeural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study.Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disordersCGG repeat in the FMR1 gene: size mattersEvidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndromeFragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics.Altered structural brain connectome in young adult fragile X premutation carriers.Sleep apnea in fragile X premutation carriers with and without FXTAS.Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndromeFragile X and autism: Intertwined at the molecular level leading to targeted treatments.Genetics of dementia.The pur protein family: genetic and structural features in development and disease.Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome.Molecular Advances Leading to Treatment Implications for Fragile X Premutation CarriersA voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome.Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments.The role of CELF proteins in neurological disorders.CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTASMotor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in miceRare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disordersMouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome.A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS.Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task.Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles.Epigenetic therapy for Friedreich ataxiaRegulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum DisordersA novel assay for evaluating fragile X locus repeatsEnhanced manual and oral motor reaction time in young adult female fragile X premutation carriers.Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
P2860
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P2860
description
2010 nî lūn-bûn
@nan
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Advances in understanding the molecular basis of FXTAS
@ast
Advances in understanding the molecular basis of FXTAS
@en
type
label
Advances in understanding the molecular basis of FXTAS
@ast
Advances in understanding the molecular basis of FXTAS
@en
prefLabel
Advances in understanding the molecular basis of FXTAS
@ast
Advances in understanding the molecular basis of FXTAS
@en
P2860
P356
P1476
Advances in understanding the molecular basis of FXTAS
@en
P2093
Dolores Garcia-Arocena
Paul J Hagerman
P2860
P356
10.1093/HMG/DDQ166
P577
2010-04-29T00:00:00Z