(Q24680853)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9150176%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9150176%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9150176%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

Bidichandani SI

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9150176%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Ashizawa T

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9150176%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 May 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9150176%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

3 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9150176%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9150176%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9150176%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

1251-1256

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9150176%20AND%20SRC:MED&resulttype=core&format=json

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase

3 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712428

Clinical and genetic abnormalities in patients with Friedreich's ataxia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712428

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712428

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712428

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712428

Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712428

Glucose metabolism alterations in Friedreich's ataxia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712428

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712428

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

28 November 2018

1 reference

PubMed

12 December 2020

Recessive ataxia in Acadians and "Cajuns"

1 reference

PubMed

12 December 2020

1 reference

12 December 2020

Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction

1 reference

PubMed

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9150176%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

9150176

1 reference