Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing (Q92528014)

From Wikidata

Jump to navigation Jump to search

scientific article published on 09 January 2020

Language	Label	Description	Also known as
English	Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing	scientific article published on 09 January 2020

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

neuronal ceroid lipofuscinosis

1 reference

based on heuristic

inferred from title

Maxime Cadieux-Dion

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Viktor Stránecký

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Patrick Cossette

14

object named as

Patrick Cossette

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

13

object named as

Jana Sovová

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Veronika Barešová

7

object named as

Veronika Barešová

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Helena Hůlková

8

object named as

Helena Hůlková

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

author name string

Ivana Jedličková

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Anna Přistoupilová

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Hana Hartmannová

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Kateřina Hodaňová

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Lenka Nosková

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Dita Mušálková

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Petr Vyleťal

12

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Eva Andermann

15

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Frederick Andermann

16

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Stanislav Kmoch

17

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Adult NCL Gene Discovery Consortium

18

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

publication date

9 January 2020

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

GEMINI: integrative exploration of genetic variation and genome annotations

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Deconvolution improves colocalization analysis of multiple fluorochromes in 3D confocal data sets more than filtering techniques

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Cysteine string protein (CSP) and its role in preventing neurodegeneration

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic and genomic testing for neurologic disease in clinical practice

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0567-2

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/S41431-019-0567-2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919451%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q92528014&oldid=2246231127"