(Q48953001)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21834902%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

title

Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21834902%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

5

1 reference

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10 February 2020

Hiroko Tabunoki

6

1 reference

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10 February 2020

author name string

Y Numasawa

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21834902%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

C Yamaura

2

1 reference

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10 February 2020

S Ishihara

3

1 reference

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10 February 2020

S Shintani

4

1 reference

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10 February 2020

J-I Satoh

7

1 reference

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10 February 2020

publication date

22 December 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21834902%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Neurology

10 February 2020

published in

1 reference

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10 February 2020

volume

18

1 reference

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10 February 2020

issue

9

1 reference

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10 February 2020

page(s)

1179-1183

1 reference

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Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects

10 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03311.X

The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03311.X

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03311.X

An Italian family with Nasu-Hakola disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03311.X

An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03311.X

Mutations in TREM2 lead to pure early-onset dementia without bone cysts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03311.X

Distribution and signaling of TREM2/DAP12, the receptor system mutated in human polycystic lipomembraneous osteodysplasia with sclerosing leukoencephalopathy dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03311.X

Clearance of apoptotic neurons without inflammation by microglial triggering receptor expressed on myeloid cells-2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03311.X