Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers
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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.Molecular Advances Leading to Treatment Implications for Fragile X Premutation CarriersCurrent research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.Intranuclear inclusions in a fragile X mosaic maleAdvances 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.Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome.FMR1 Premutation: Basic Mechanisms and Clinical Involvement.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
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Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 17 October 2012
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers
@en
type
label
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers
@en
prefLabel
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers
@en
P2093
P2860
P356
P1433
P1476
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers
@en
P2093
P2860
P356
10.1111/CGE.12026
P577
2012-10-17T00:00:00Z