Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis (Q51540318)

6 April 2018

http://europepmc.org/abstract/MED/20876156

title

Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis (English)

1 reference

DOI

10.1177/1352458510382933

https://api.crossref.org/works/10.1177/1352458510382933

21 July 2024

0 references

A. Blaschek

1

1 reference

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21 July 2024

P. Lohse

2

1 reference

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21 July 2024

K. Huss

3

1 reference

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21 July 2024

I. Borggraefe

4

1 reference

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21 July 2024

W. Mueller-Felber

5

1 reference

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21 July 2024

F. Heinen

6

1 reference

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21 July 2024

R. Hohlfeld

7

1 reference

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21 July 2024

T. Kümpfel

8

1 reference

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21 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20876156

21 July 2024

publication date

27 September 2010

1 reference

6 April 2018

http://europepmc.org/abstract/MED/20876156

full work available at URL

https://epub.ub.uni-muenchen.de/15555/1/concurrent_TNFRSFIA.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20876156

http://msj.sagepub.com/cgi/content/abstract/16/12/1517

21 July 2024

online access status

open access

1 reference

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http://journals.sagepub.com/doi/pdf/10.1177/1352458510382933

21 July 2024

1 reference

DOI

10.1177/1352458510382933

https://api.crossref.org/works/10.1177/1352458510382933

Multiple Sclerosis Journal

21 July 2024

published in

1 reference

6 April 2018

http://europepmc.org/abstract/MED/20876156

volume

16

1 reference

6 April 2018

http://europepmc.org/abstract/MED/20876156

issue

12

1 reference

6 April 2018

http://europepmc.org/abstract/MED/20876156

page(s)

1517-1520

1 reference

6 April 2018

http://europepmc.org/abstract/MED/20876156

cites work

Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement

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The tumor-necrosis-factor-associated periodic syndrome, the brain, and tumor-necrosis-factor-alpha antagonists.

21 January 2018

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Inflammatory/demyelinating central nervous system involvement in familial Mediterranean fever (FMF): coincidence or association?

21 January 2018

1 reference

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Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1352458510382933

Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F1352458510382933

Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases

21 January 2018

1 reference

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Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

21 January 2018

1 reference

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"Periodic fever" without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis

21 January 2018

1 reference

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MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.

21 January 2018

1 reference

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Understanding pathogenesis and therapy of multiple sclerosis via animal models: 70 years of merits and culprits in experimental autoimmune encephalomyelitis research.

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1177/1352458510382933

1 reference

6 April 2018

http://europepmc.org/abstract/MED/20876156

1 reference

6 April 2018