(Q33924503)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

parkinsonian syndrome

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Justin P Rubio

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Minh Bui

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

author name string

D Z Loesch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

M S Khaniani

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

H R Slater

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

K Kotschet

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

W D'Souza

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

A Venn

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

A K H Choo

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

T Burgess

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

L Johnson

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

A Evans

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

M Horne

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

publication date

30 September 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

volume

76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

page(s)

471-476

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

Molecular basis of Parkinson's disease

8 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Size bias of fragile X premutation alleles in late-onset movement disorders.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Screening for fragile X syndrome: a literature review and modelling study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Triplet repeats, RNA secondary structure and toxic gain-of-function models for pathogenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Criteria for diagnosing Parkinson's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

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

28 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01275.X

Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01275.X

Screen for excess FMR1 premutation alleles among males with parkinsonism

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

FMR1 alleles in Parkinson's disease: relation to cognitive decline and hallucinations, a longitudinal study

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Magnetic resonance imaging study in older fragile X premutation male carriers

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

FMR1 alleles in Tasmania: a screening study of the special educational needs population

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Premutation alleles associated with Parkinson disease and essential tremor

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Parkinsonism, FXTAS, and FMR1 premutations

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888465

A rapid, reliable, and inexpensive method for detection of di- and trinucleotide repeat markers and disease loci from dried blood spots

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19796183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Screening Parkinson's disease: a validated questionnaire of high specificity and sensitivity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19796183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1399-0004.2009.01275.X

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19796183%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

19796183

1 reference