(Q41736716)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

main subject

Machado-Joseph disease

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Patricia Maciel

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Manuela Lima

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Conceicao Bettencourt

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Cristina Santos

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Teresa Kay

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

João Vasconcelos

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

publication date

25 November 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

12 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

621-623

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.215

12 February 2020

exact match

0 references

cites work

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987309

Transcription and nuclear transport of CAG/CTG trinucleotide repeats in yeast

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987309

Improvement in the molecular diagnosis of Machado-Joseph disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987309

The genomic structure and expression of MJD, the Machado-Joseph disease gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987309

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987309

Correlation between CAG repeat length and clinical features in Machado-Joseph disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987309

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987309

Analysis of segregation patterns in Machado-Joseph disease pedigrees.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987309

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987309

Somatic mosaicism of the expanded CAG trinucleotide repeat in mRNAs for the responsible gene of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and spinal and bulbar muscular atrophy (SBMA).

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987309

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987309

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

18 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.215

Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19935829

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Triplet repeat DNA structures and human genetic disease: dynamic mutations from dynamic DNA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19935829

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

GENEPOP (Version 1.2): Population Genetics Software for Exact Tests and Ecumenicism

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.215

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.215

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

12 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19935829%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

19935829

1 reference