Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.
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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-associated tremor/ataxia syndrome.Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding.The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiologyFragile X tremor ataxia syndrome and white matter dementia.Memantine effects on verbal memory in fragile X-associated tremor/ataxia syndrome (FXTAS): a double-blind brain potential study.PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation.Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety.Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation CarriersAssociated features in females with an FMR1 premutationThe cognitive neuropsychological phenotype of carriers of the FMR1 premutation.Emerging topics in FXTAS.Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency.ERP abnormalities elicited by word repetition in fragile X-associated tremor/ataxia syndrome (FXTAS) and amnestic MCI.New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.Fragile X mental retardation protein expression in Alzheimer's diseaseMolecular Advances Leading to Treatment Implications for Fragile X Premutation CarriersFragile X gene expansions are not associated with dementiaCurrent research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two casesCOGNITIVE DYSFUNCTION IN FMR1 PREMUTATION CARRIERS.Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndromeEMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersMaternal predictors of anxiety risk in young males with fragile XDistribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutationIntranuclear inclusions in a fragile X mosaic maleDevelopmental and behavioral pediatricians' attitudes toward screening for fragile X.Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers.Genetic and epigenetic factors underlying sex differences in the regulation of gene expression in the brain.Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.Abnormal semantic processing in females with fragile X-associated tremor/ataxia syndrome.Phenotypes of hypofrontality in older female fragile X premutation carriersAdvances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the fieldCommentary: Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis.Cellular resolution maps of X chromosome inactivation: implications for neural development, function, and disease.Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.What's hAPPening at synapses? The role of amyloid β-protein precursor and β-amyloid in neurological disorders."Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.Understanding the neuropsychiatric phenotype of fragile X-associated tremor ataxia syndrome: a systematic review.
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Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.
description
article científic
@ca
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 06 April 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
Neuropathological, clinical an ...... rriers with and without FXTAS.
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Neuropathological, clinical an ...... rriers with and without FXTAS.
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type
label
Neuropathological, clinical an ...... rriers with and without FXTAS.
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Neuropathological, clinical an ...... rriers with and without FXTAS.
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prefLabel
Neuropathological, clinical an ...... rriers with and without FXTAS.
@en
Neuropathological, clinical an ...... rriers with and without FXTAS.
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Neuropathological, clinical an ...... arriers with and without FXTAS
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P2093
A L Seritan
P J Hagerman
R F Berman
R J Hagerman
S Jacquemont
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P304
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10.1111/J.1601-183X.2012.00779.X
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P577
2012-04-06T00:00:00Z