FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. - Wikidata - awgldk - TriplyDB

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

http://www.wikidata.org/entity/Q34721602

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The multiple molecular facets of fragile X-associated tremor/ataxia syndrome RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome Unstable mutations in the FMR1 gene and the phenotypes Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome.Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited.Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.Associated features in females with an FMR1 premutation The cognitive neuropsychological phenotype of carriers of the FMR1 premutation.Emerging topics in FXTAS.Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS.Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments.Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome.Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation Temporal dynamics of attentional selection in adult male carriers of the fragile X premutation allele and adult controls.Genetic reduction of group 1 metabotropic glutamate receptors alters select behaviors in a mouse model for fragile X syndrome.Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation.Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts.High rates of parkinsonism in adults with autism.Regulatory RNAs in brain function and disorders.Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10.X-inactivation in the clinical phenotype of fragile X premutation carrier sisters.Neurological and endocrine phenotypes of fragile X carrier women.CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS)Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease.FMR1: a gene with three faces.Ectopic expression of CGG containing mRNA is neurotoxic in mammals.Developmental profiles of infants with an FMR1 premutation.RNA-mediated pathogenesis in fragile X-associated disorders.

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P2860

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

http://www.wikidata.org/entity/Q34721602

description

2007 nî lūn-bûn

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2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

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type

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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

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prefLabel

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

@ast

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers

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C D Rice

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D A Hall

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L Zhang

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P2860

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

The Measurement of Observer Agreement for Categorical Data

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

Size bias of fragile X premutation alleles in late-onset movement disorders.

Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome.

Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome.

FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).

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