Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.
about
How to tackle tremor - systematic review of the literature and diagnostic work-upChildhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatricsAdvances in the treatment of fragile X syndromeSecond consensus statement on the diagnosis of multiple system atrophyMouse Genetic Models of Human Brain DisordersAdvances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum DisorderFragile X syndromeUnstable mutations in the FMR1 gene and the phenotypesDetection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)Phenobarbital use and neurological problems in FMR1 premutation carriersAuditory processing in fragile x syndrome.Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome.Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disordersFragile X: a family of disorders.A patient with tremor, part 1: making the diagnosisFibroblast phenotype in male carriers of FMR1 premutation allelesFragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome.Broad clinical involvement in a family affected by the fragile X premutation.Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.Past, present and future therapeutics for cerebellar ataxias.Age-dependent cognitive impairment in a Drosophila fragile X model and its pharmacological rescuePsychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.Advances in understanding the molecular basis of FXTASAging in fragile X syndrome.Milestones in magnetic resonance imaging and transcranial sonography of movement disorders.Sleep apnea in fragile X premutation carriers with and without FXTAS.Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndromeThe cognitive neuropsychological phenotype of carriers of the FMR1 premutation.Emerging topics in FXTAS.Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers.Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.Fragile X mental retardation protein expression in Alzheimer's diseaseMolecular 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.Initiation of translation of the FMR1 mRNA Occurs predominantly through 5'-end-dependent ribosomal scanningEFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation.
P2860
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P2860
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.
description
2007 nî lūn-bûn
@nan
2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Fragile X-associated tremor/at ...... etics, and testing guidelines.
@ast
Fragile X-associated tremor/at ...... etics, and testing guidelines.
@en
type
label
Fragile X-associated tremor/at ...... etics, and testing guidelines.
@ast
Fragile X-associated tremor/at ...... etics, and testing guidelines.
@en
prefLabel
Fragile X-associated tremor/at ...... etics, and testing guidelines.
@ast
Fragile X-associated tremor/at ...... etics, and testing guidelines.
@en
P2093
P2860
P356
P1433
P1476
Fragile X-associated tremor/at ...... etics, and testing guidelines.
@en
P2093
Brenda Finucane
Claudia Greco
Deborah A Hall
Elizabeth Berry-Kravis
Flora Tassone
James A Bourgeois
James A Brunberg
Jim Grigsby
Liane Abrams
P2860
P304
2018-30, quiz 2140
P356
10.1002/MDS.21493
P407
P577
2007-10-01T00:00:00Z