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Advances in understanding the molecular basis of FXTAS
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Europe PubMed Central
PubMed ID
20430935
retrieved
29 July 2017
review article
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Europe PubMed Central
title
Advances in understanding the molecular basis of FXTAS
(English)
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stated in
Europe PubMed Central
PubMed ID
20430935
retrieved
29 July 2017
author name string
Dolores Garcia-Arocena
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
20430935
retrieved
29 July 2017
Paul J Hagerman
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
20430935
retrieved
29 July 2017
publication date
29 April 2010
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stated in
Europe PubMed Central
PubMed ID
20430935
retrieved
29 July 2017
published in
Human Molecular Genetics
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stated in
Europe PubMed Central
PubMed ID
20430935
retrieved
29 July 2017
volume
19
1 reference
stated in
Europe PubMed Central
PubMed ID
20430935
retrieved
29 July 2017
issue
R1
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stated in
Europe PubMed Central
PubMed ID
20430935
retrieved
29 July 2017
page(s)
R83-9
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stated in
Europe PubMed Central
PubMed ID
20430935
retrieved
29 July 2017
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Abnormal nerve conduction features in fragile X premutation carriers
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Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease
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The FMR1 premutation and reproduction
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RNA-mediated neuromuscular disorders
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Dysfunction of lamin A triggers a DNA damage response and cellular senescence
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Heterogeneous nuclear ribonucleoprotein B1 protein impairs DNA repair mediated through the inhibition of DNA-dependent protein kinase activity
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Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).
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hnRNP A2, a potential ssDNA/RNA molecular adapter at the telomere
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Association of FMR1 repeat size with ovarian dysfunction
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Adult neuron survival strategies--slamming on the brakes
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Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
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A study of the distributional characteristics of FMR1 transcript levels in 238 individuals
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The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer
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Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse
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The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
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Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
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5 July 2018
Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.
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5 July 2018
Increased expression of heterogeneous nuclear ribonucleoprotein A2/B1 (hnRNP) in pancreatic tissue from smokers and pancreatic tumor cells
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5 July 2018
A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA.
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5 July 2018
Puralpha: a multifunctional single-stranded DNA- and RNA-binding protein
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5 July 2018
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.
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5 July 2018
Prospective detection of preclinical lung cancer: results from two studies of heterogeneous nuclear ribonucleoprotein A2/B1 overexpression
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Fragile X premutation screening in women with premature ovarian failure.
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5 July 2018
Fragile-X: neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes
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5 July 2018
Fragile X genotype characterized by an unstable region of DNA.
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5 July 2018
Human telomeres are attached to the nuclear matrix
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5 July 2018
Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS).
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29 October 2018
Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS).
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29 October 2018
Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey.
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29 October 2018
Mood and anxiety disorders in females with the FMR1 premutation
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29 October 2018
Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene.
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29 October 2018
Age-dependent cognitive changes in carriers of the fragile X syndrome.
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29 October 2018
Expanded clinical phenotype of women with the FMR1 premutation.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
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29 October 2018
Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome.
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29 October 2018
Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS).
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29 October 2018
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.
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PubMed Central
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29 October 2018
Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
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29 October 2018
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
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29 October 2018
Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
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29 October 2018
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
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29 October 2018
Amygdala dysfunction in men with the fragile X premutation.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
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29 October 2018
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1.
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29 October 2018
Progression of tremor and ataxia in male carriers of the FMR1 premutation.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
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29 October 2018
Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome
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29 October 2018
Social behavior and cortisol reactivity in children with fragile X syndrome.
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29 October 2018
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation
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29 October 2018
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
retrieved
29 October 2018
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
retrieved
29 October 2018
Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
retrieved
29 October 2018
Protein composition of the intranuclear inclusions of FXTAS.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
retrieved
29 October 2018
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
retrieved
29 October 2018
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
retrieved
29 October 2018
The emerging fragile X premutation phenotype: evidence from the domain of social cognition.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
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29 October 2018
A neuropsychological investigation of male premutation carriers of fragile X syndrome.
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
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29 October 2018
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
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29 October 2018
Clinical features of boys with fragile X premutations and intermediate alleles.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
retrieved
29 October 2018
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
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29 October 2018
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
retrieved
29 October 2018
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
retrieved
29 October 2018
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875053
retrieved
29 October 2018
Identifiers
DOI
10.1093/HMG/DDQ166
1 reference
stated in
Europe PubMed Central
PubMed ID
20430935
retrieved
29 July 2017
PMCID
2875053
1 reference
stated in
Europe PubMed Central
PubMed ID
20430935
retrieved
29 July 2017
PubMed ID
20430935
1 reference
stated in
Europe PubMed Central
PubMed ID
20430935
retrieved
29 July 2017
ResearchGate publication ID
43354882
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