(Q34543604)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

title

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Carla Andreia Teixeira

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

Maria Clara Pereira Sá Miranda

26 December 2019

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Maria Gil Ribeiro

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

author name string

M Mangas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

A Dias

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

A Guimarães

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

J C Ferreira

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

N Canas

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

P Cabral

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

publication date

30 June 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

26 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

volume

89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

page(s)

245-253

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

The European Concerted Action NCL Clinical Case Registry

26 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Isolation of a novel gene underlying batten disease, CLN3

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Glycoconjugate abnormalities in the ceroid-lipofuscinoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

A variant of Jansky-Bielschowsky disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

A simple salting out procedure for extracting DNA from human nucleated cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Complex arylsulfatase A alleles causing metachromatic leukodystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Nonsense-mediated mRNA decay in health and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

Neuronal ceroid-lipofuscinoses in childhood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.010

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2006.04.010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16814585%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference