Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
about
Advances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum DisorderFragile X spectrum disordersFragile X-associated tremor/ataxia syndrome.The multiple molecular facets of fragile X-associated tremor/ataxia syndromeFragile X syndromeRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersStudy of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersAdvanced technologies for the molecular diagnosis of fragile X syndromeIn the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?FMR1 CGG allele size and prevalence ascertained through newborn screening in the United StatesTowards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation CarriersEmerging topics in FXTAS.Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial.Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.Distribution of AGG interruption patterns within nine world populations.Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriersFMR1 CGG expansions: prevalence and sex ratios.Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile.Understanding the neuropsychiatric phenotype of fragile X-associated tremor ataxia syndrome: a systematic review.Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology.Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.Fragile X syndrome: an overview and update of the FMR1 gene.New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease.FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age.Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.Acute Stroke in Middle Cerebellar Peduncle in a Patient With FXTAS.Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.Immune mediated disorders in women with a fragile X expansion and FXTAS.Curvilinear Association Between Language Disfluency and CGG Repeat Size Across the Normal, Intermediate, and Premutation Range
P2860
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P2860
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
description
2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
@ast
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
@en
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
@nl
type
label
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
@ast
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
@en
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
@nl
prefLabel
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
@ast
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
@en
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
@nl
P2093
P2860
P356
P1433
P1476
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
@en
P2093
Deborah Hall
Flora Tassone
Maureen Leehey
Olga Klepitskaya
P2860
P304
P356
10.1002/MDS.24021
P407
P577
2011-12-11T00:00:00Z