(Q36927093)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

meta-analysis

0 references

title

Size bias of fragile X premutation alleles in late-onset movement disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

author name string

Sebastien Jacquemont

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Maureen A Leehey

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Randi J Hagerman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Paul J Hagerman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

language of work or name

English

0 references

publication date

24 May 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

28 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

page(s)

804-809

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group

28 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

The fragile-X premutation: a maturing perspective

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Aging in individuals with the FMR1 mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Consensus statement on the diagnosis of multiple system atrophy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Magnetic resonance imaging study in older fragile X premutation male carriers.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Should we screen for FMR1 premutations in female subjects presenting with ataxia?

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

FXTAS, SCA10, and SCA17 in American patients with movement disorders.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Fragile X gene premutation in multiple system atrophy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Premutation alleles associated with Parkinson disease and essential tremor.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Parkinsonism, FXTAS, and FMR1 premutations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Screen for expanded FMR1 alleles in patients with essential tremor

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Incidence of fragile X in 5,000 consecutive newborn males.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563171

Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16723388

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Fragile X carrier screening and spinocerebellar ataxia in older males

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16723388

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.042374

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

release_tsquv26of5hadfaqyjrair2kpu

28 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tsquv26of5hadfaqyjrair2kpu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16723388%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference