Size bias of fragile X premutation alleles in late-onset movement disorders.
about
Advances in the treatment of fragile X syndromeMapping of an origin of DNA replication in the promoter of fragile X gene FMR1RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndromeMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersA review of fragile X premutation disorders: expanding the psychiatric perspectiveFragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatmentEvidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriersFMR1 CGG allele size and prevalence ascertained through newborn screening in the United StatesThe primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome.Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonismThe fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubertFMR1 CGG repeat length predicts motor dysfunction in premutation carriers.CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTASThe FMR1 gene and fragile X-associated tremor/ataxia syndrome.Microsatellite repeat instability and neurological disease.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyCapturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts.Molecular basis of genetic neuropsychiatric disordersDetection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery.CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.The fragile X continuum: new advances and perspectives.Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population.Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.The fragile X prevalence paradoxRNA-mediated pathogenesis in fragile X-associated disorders.Human Inducible Pluripotent Stem Cells and Autism Spectrum Disorder: Emerging Technologies.Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in MiceA genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelinesFMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insuffici[Genetics of tremor].Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.
P2860
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P2860
Size bias of fragile X premutation alleles in late-onset movement disorders.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Size bias of fragile X premutation alleles in late-onset movement disorders.
@en
type
label
Size bias of fragile X premutation alleles in late-onset movement disorders.
@en
prefLabel
Size bias of fragile X premutation alleles in late-onset movement disorders.
@en
P2093
P2860
P356
P1476
Size bias of fragile X premutation alleles in late-onset movement disorders
@en
P2093
Maureen A Leehey
Paul J Hagerman
Randi J Hagerman
Sebastien Jacquemont
P2860
P304
P356
10.1136/JMG.2006.042374
P407
P577
2006-05-24T00:00:00Z