(Q74448553)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112211%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112211%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

1 reference

Danqing Zhu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112211%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Christopher Burke

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112211%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Anthony Leslie

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112211%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Garth A Nicholson

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112211%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 May 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112211%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

number of pages

5

1 reference

based on heuristic

inferred from page(s)

published in

Movement Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112211%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112211%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112211%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

585-589

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112211%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

10 November 2019

cites work

1 reference

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

21 January 2018

1 reference

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

21 January 2018

1 reference

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

21 January 2018

1 reference

G130V, a common FRDA point mutation, appears to have arisen from a common founder

21 January 2018

1 reference

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

21 January 2018

1 reference

Bi-directional dideoxy fingerprinting (Bi-ddF): a rapid method for quantitative detection of mutations in genomic regions of 300-600 bp

21 January 2018

1 reference

Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

21 January 2018

1 reference

Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor

21 January 2018

1 reference

Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features

21 January 2018

1 reference

Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.10175

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112211%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference