(Q80325491)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

Irene De Biase

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Astrid Rasmussen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Antonella Monticelli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Sahar Al-Mahdawi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Mark Pook

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Sergio Cocozza

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Sanjay I Bidichandani

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

publication date

10 May 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

page(s)

1-5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Clinical and genetic abnormalities in patients with Friedreich's ataxia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Clinical and genetic study of Friedreich ataxia in an Australian population.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Replication stalling at Friedreich's ataxia (GAA)n repeats in vivo.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

CTG repeat instability and size variation timing in DNA repair-deficient mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.04.001

10.1016/J.YGENO.2007.04.001

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17498922%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference