(Q60672793)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10465165%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

title

Batten's disease: eight genes and still counting? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10465165%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10465165%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

language of work or name

English

0 references

publication date

1 August 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10465165%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10465165%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

volume

354

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10465165%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

issue

9177

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10465165%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

page(s)

443-445

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10465165%20AND%20SRC:MED&resulttype=core&format=json

Neuronal ceroid-lipofuscinoses in childhood

12 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

Kufs' disease: a critical reappraisal

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

Action of BTN1, the yeast orthologue of the gene mutated in Batten disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

A murine model for juvenile NCL: gene targeting of mouse Cln3

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2899%2900173-7

7 January 2021

10.1016/S0140-6736(99)00173-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10465165%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

1 reference