Clinical involvement and protein expression in individuals with the FMR1 premutation.
about
The fragile-X premutation: a maturing perspective.Advances in the treatment of fragile X syndromeCytogenetic abnormalities and fragile-X syndrome in Autism Spectrum DisorderFragile X spectrum disordersFragile X-associated tremor/ataxia syndrome.Unstable mutations in the FMR1 gene and the phenotypesA decade of the anaphase-promoting complex in the nervous systemCGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA GranulesMolecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targetsPremutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding.Evidence for RNA-mediated toxicity in the 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.Language Development in Individuals with Fragile X SyndromeTowards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation CarriersFragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation.Associated features in females with an FMR1 premutationExamination of FMR1 transcript and protein levels among 74 premutation carriers.FMR1 gene and fragile X syndrome.Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.Fragile X and autism: Intertwined at the molecular level leading to targeted treatments.FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients.Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.FMRP detection assay for the diagnosis of the fragile X syndrome.Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.Increasing our understanding of human cognition through the study of Fragile X Syndrome.Molecular Advances Leading to Treatment Implications for Fragile X Premutation CarriersCognitive Aspects of Fragile X syndrome.Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments.Cardiac autonomic regulation in autism and Fragile X syndrome: a review.Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two casesMotor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in miceMouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome.Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task.A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis.FMR1 premutation and full mutation molecular mechanisms related to autism.Targeted treatments for fragile X syndrome.
P2860
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P2860
Clinical involvement and protein expression in individuals with the FMR1 premutation.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
2000年學術文章
@zh-hant
name
Clinical involvement and protein expression in individuals with the FMR1 premutation.
@en
Clinical involvement and protein expression in individuals with the FMR1 premutation.
@nl
type
label
Clinical involvement and protein expression in individuals with the FMR1 premutation.
@en
Clinical involvement and protein expression in individuals with the FMR1 premutation.
@nl
prefLabel
Clinical involvement and protein expression in individuals with the FMR1 premutation.
@en
Clinical involvement and protein expression in individuals with the FMR1 premutation.
@nl
P2093
P2860
P1476
Clinical involvement and protein expression in individuals with the FMR1 premutation.
@en
P2093
Hagerman PJ
Hagerman RJ
P2860
P304
P356
10.1002/(SICI)1096-8628(20000313)91:2<144::AID-AJMG14>3.0.CO;2-V
P577
2000-03-01T00:00:00Z