An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy (Q87986087)

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scientific article published on 01 July 2014

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Language	Label	Description	Also known as
English	An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy	scientific article published on 01 July 2014

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instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

title

An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

main subject

L-alanine

1 reference

based on heuristic

inferred from title

oculopharyngeal muscular dystrophy

1 reference

based on heuristic

inferred from title

author

Guy A. Rouleau

series ordinal

7

object named as

G A Rouleau

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

author name string

L Jouan

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

D Rocheford

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

A Szuto

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

E Carney

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

K David

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

P A Dion

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

publication date

1 July 2014

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stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

published in

Canadian Journal of Neurological Sciences

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

volume

41

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

issue

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

page(s)

508-511

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

cites work

Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1017%2FS0317167100018588

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Variability of the recessive oculopharyngeal muscular dystrophy phenotype

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1017%2FS0317167100018588

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Oculopharyngeal muscular dystrophy in Hispanic New Mexicans

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1017%2FS0317167100018588

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Siblings with recessive oculopharyngeal muscular dystrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1017%2FS0317167100018588

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1017%2FS0317167100018588

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1017%2FS0317167100018588

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1017%2FS0317167100018588

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Executive functions are impaired in heterozygote patients with oculopharyngeal muscular dystrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1017%2FS0317167100018588

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1017%2FS0317167100018588

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1017%2FS0317167100018588

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1017%2FS0317167100018588

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1017%2FS0317167100018588

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1017/S0317167100018588

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

PubMed publication ID

24878479

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24878479

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24878479%20AND%20SRC:MED&resulttype=core&format=json

retrieved

19 March 2020

 

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