Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.
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Fragile X spectrum disordersFragile X-associated tremor/ataxia syndrome.Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersReversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.Transcription-associated R-loop formation across the human FMR1 CGG-repeat regionThe fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiologyFragile X tremor ataxia syndrome and white matter dementia.Memantine effects on verbal memory in fragile X-associated tremor/ataxia syndrome (FXTAS): a double-blind brain potential study.CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.Climbing the branches of a family tree: diagnosis of fragile X syndrome.Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation CarriersAssociated features in females with an FMR1 premutationExpression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans.X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion.Fragile x premutationC9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?Clinical and molecular implications of mosaicism in FMR1 full mutations.RNA-protein interactions in unstable microsatellite diseases.Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.Fragile X mental retardation protein expression in Alzheimer's diseaseRepeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders.Molecular Advances Leading to Treatment Implications for Fragile X Premutation CarriersThe neurogenetics of atypical parkinsonian disordersAxonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome.High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells.Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders.Psychosis and catatonia in fragile X: Case report and literature review.RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndromeAnxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands.Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTDRepeat-associated non-ATG (RAN) translation in neurological disease.Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective StudyIdentifying proteins that bind to specific RNAs - focus on simple repeat expansion diseases.Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions.Modeling neurodevelopmental disorders using human pluripotent stem cells.The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients.Single-locus enrichment without amplification for sequencing and direct detection of epigenetic modifications.Aging in Fragile X Premutation Carriers.
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Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 21 June 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.
@en
Fragile X-associated tremor/ataxia syndrome
@nl
type
label
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.
@en
Fragile X-associated tremor/ataxia syndrome
@nl
prefLabel
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.
@en
Fragile X-associated tremor/ataxia syndrome
@nl
P2860
P1476
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.
@en
P2093
Paul Hagerman
P2860
P2888
P356
10.1007/S00401-013-1138-1
P577
2013-06-21T00:00:00Z