(Q33649307)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

6

Flora Tassone

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

8

Paul J Hagerman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

author name string

Anna Lisa Ludwig

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Glenda M Espinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Dalyir I Pretto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Amanda L Jamal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Robert F Berman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

publication date

23 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

page(s)

3228-3238

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

6 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4030777/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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FMR1 CGG expansions: prevalence and sex ratios

21 June 2018

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FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

21 June 2018

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Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles

21 June 2018

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Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation

21 June 2018

1 reference

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Female CGG knock-in mice modeling the fragile X premutation are impaired on a skilled forelimb reaching task

21 June 2018

1 reference

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FMR1 and the continuum of primary ovarian insufficiency

21 June 2018

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Fibromyalgia in fragile X mental retardation 1 gene premutation carriers

21 June 2018

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Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice

21 June 2018

1 reference

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Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice

21 June 2018

1 reference

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New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS)

21 June 2018

1 reference

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Initiation of translation of the FMR1 mRNA Occurs predominantly through 5'-end-dependent ribosomal scanning

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis

21 June 2018

1 reference

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Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation.

21 June 2018

1 reference

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Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Fragile X syndrome -- from genes to cognition

21 June 2018

1 reference

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Progressive spatial processing deficits in a mouse model of the fragile X premutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Examination of FMR1 transcript and protein levels among 74 premutation carriers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Fibroblast phenotype in male carriers of FMR1 premutation alleles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Mouse models of fragile X-associated tremor ataxia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

A quantitative ELISA assay for the fragile x mental retardation 1 protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Ectopic expression of CGG containing mRNA is neurotoxic in mammals

21 June 2018

1 reference

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Advances in the treatment of fragile X syndrome

21 June 2018

1 reference

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CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.

21 June 2018

1 reference

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Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome

21 June 2018

1 reference

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Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Elevated FMR1 mRNA in premutation carriers is due to increased transcription.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation

21 June 2018

1 reference

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An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene

21 June 2018

1 reference

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Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Facile FMR1 mRNA structure regulation by interruptions in CGG repeats

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Phenotypic variation and FMRP levels in fragile X.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Fragile X-associated tremor/ataxia syndrome (FXTAS).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Expression of the FMR1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Absence of expression of the FMR-1 gene in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4030777

FMR1 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

21 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

FXTAS: new insights and the need for revised diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Obstetrical and gynecological complications in fragile X carriers: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Secondary structure and dynamics of the r(CGG) repeat in the mRNA of the fragile X mental retardation 1 (FMR1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Instability of a (CGG)98 repeat in the Fmr1 promoter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Quantitative measurement of FMRP in blood platelets as a new screening test for fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

FMRP regulates the transition from radial glial cells to intermediate progenitor cells during neocortical development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU032

Protein extraction from solid tissue

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24463622

12 December 2020

inferred from PubMed ID database lookup

Fragile X-associated tremor/ataxia syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24463622

12 December 2020

inferred from PubMed ID database lookup

Maturation of the head of bacteriophage T4. I. DNA packaging events

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24463622

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDU032

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

PubMed publication ID

24463622

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24463622%20AND%20SRC:MED&resulttype=core&format=json