(Q26997333)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014507%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

title

Large animal models for Batten disease: a review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014507%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014507%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

author name string

David A Pearce

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014507%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

language of work or name

1 reference

1 September 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014507%20AND%20SRC:MED&resulttype=core&format=json

Journal of Child Neurology

20 February 2020

published in

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014507%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

volume

28

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014507%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

issue

9

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014507%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

page(s)

1123-1127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014507%20AND%20SRC:MED&resulttype=core&format=json

Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function

20 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

Neuronal ceroid lipofuscinosis in 3 Australian shepherd littermates

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English setter dogs

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

Sheep and other animals with ceroid-lipofuscinoses: their relevance to Batten disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

An adult case of canine neuronal ceroid-lipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

Blindness in South Hampshire sheep: a neuronal ceroidlipofuscinosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4009683

Neuronal ceroid lipofuscinoses

31 May 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

A variant form of neuronal ceroid lipofuscinosis in American bulldogs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

Cerebellar cortical degeneration in adult American Staffordshire Terriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

Neuronal ceroid-lipofuscinosis in older dachshunds

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

Neuronal ceroid lipofuscinosis in Merino sheep

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

Neuronal ceroid-lipofuscinosis in Borderdale sheep

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

Congenital ovine neuronal ceroid lipofuscinosis--a cathepsin D deficiency with increased levels of the inactive enzyme.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073813493666

Neurovisceral ceroid-lipofuscinosis in blind Devon cattle

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/24014507

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1177/0883073813493666

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014507%20AND%20SRC:MED&resulttype=core&format=json

release_ivbpcfwcc5b2dkw5bz4audblma

20 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ivbpcfwcc5b2dkw5bz4audblma

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24014507%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

PubMed publication ID

24014507

2 references