Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1 (Q28293376)

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English	Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 March 2020

title

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1 (English)

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stated in

Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

author

Benedikt Schoser

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2

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

Karim Wahbi

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9

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

author name string

Johanna Nilsson

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1

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

Pascal Laforet

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3

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PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

Ognian Kalev

series ordinal

4

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

Christopher Lindberg

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5

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

Norma B Romero

series ordinal

6

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

Marcela Dávila López

series ordinal

7

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PubMed publication ID

23798481

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retrieved

3 March 2020

Hasan O Akman

series ordinal

8

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PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

Stephan Iglseder

series ordinal

10

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

Christian Eggers

series ordinal

11

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

Andrew G Engel

series ordinal

12

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

Salvatore Dimauro

series ordinal

13

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 March 2020

Anders Oldfors

series ordinal

14

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stated in

Europe PubMed Central

PubMed publication ID

23798481

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 March 2020

language of work or name

English

0 references

publication date

1 December 2013

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stated in

Europe PubMed Central

PubMed publication ID

23798481

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retrieved

3 March 2020

published in

Annals of Neurology

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Europe PubMed Central

PubMed publication ID

23798481

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 March 2020

volume

74

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

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3 March 2020

issue

6

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Europe PubMed Central

PubMed publication ID

23798481

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 March 2020

page(s)

914-919

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Europe PubMed Central

PubMed publication ID

23798481

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retrieved

3 March 2020

cites work

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Six1 and Eya1 expression can reprogram adult muscle from the slow-twitch phenotype into the fast-twitch phenotype

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss, and renal anomalies

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Identification of the ubiquitin-protein ligase that recognizes oxidized IRP2

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Mutual regulation of conventional protein kinase C and a ubiquitin ligase complex.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Signaling to NF-kappaB

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

LUBAC, a novel ubiquitin ligase for linear ubiquitination, is crucial for inflammation and immune responses.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

SINK Is a p65-interacting Negative Regulator of NF-κB-dependent Transcription

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Mutations in NHLRC1 cause progressive myoclonus epilepsy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Deciphering the role of malin in the lafora progressive myoclonus epilepsy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FANA.23963

retrieved

21 January 2018

Identifiers

DOI

10.1002/ANA.23963

2 references

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

192179

stated in

Europe PubMed Central

PubMed publication ID

23798481

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 March 2020

OpenCitations bibliographic resource ID

192179

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

192179

PubMed publication ID

23798481

2 references

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

192179

stated in

Europe PubMed Central

PubMed publication ID

23798481

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798481%20AND%20SRC:MED&resulttype=core&format=json

retrieved

3 March 2020

ResearchGate publication ID

242018584

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