(Q47956189)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877479%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877479%20AND%20SRC:MED&resulttype=core&format=json

juvenile neuronal ceroid lipofuscinosis

5 March 2020

main subject

0 references

author

Arlene Drack

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877479%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Jake N Miller

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877479%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

author name string

David A Pearce

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877479%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

publication date

22 July 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877479%20AND%20SRC:MED&resulttype=core&format=json

Journal of Child Neurology

5 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877479%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877479%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877479%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

page(s)

1112-1116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877479%20AND%20SRC:MED&resulttype=core&format=json

The neuronal ceroid-lipofuscinoses

5 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

Neuronal ceroid lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

CLN3, the protein associated with batten disease: structure, function and localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

Defective lysosomal arginine transport in juvenile Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

Nonsense-mediated decay approaches the clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

Pharmaceutical therapies to recode nonsense mutations in inherited diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813494812

21 January 2018

Identifiers

DOI

10.1177/0883073813494812

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23877479%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference