(Q49140091)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21696388%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9) (English)

1 reference

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5 February 2020

1 reference

7

1 reference

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5 February 2020

author name string

H Eiberg

1

1 reference

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5 February 2020

L Hansen

2

1 reference

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5 February 2020

L Korbo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21696388%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

I M Nielsen

4

1 reference

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5 February 2020

K Svenstrup

5

1 reference

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5 February 2020

S Bech

6

1 reference

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5 February 2020

L Friberg

8

1 reference

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5 February 2020

L E Hjermind

9

1 reference

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5 February 2020

O R Olsen

10

1 reference

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5 February 2020

J E Nielsen

11

1 reference

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5 February 2020

publication date

18 July 2011

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5 February 2020

1 reference

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5 February 2020

volume

82

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5 February 2020

issue

3

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5 February 2020

page(s)

256-263

1 reference

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Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

5 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

ATP13A2 variability in Parkinson disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

ATP13A2 variants in early-onset Parkinson's disease patients and controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

ATP13A2 G2236A variant is rare in patients with early-onset Parkinson's disease and familial Parkinson's disease from Mainland China

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

Rapid screening of ATP13A2 variant with high-resolution melting analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

PARK9-LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01745.X

10.1111/J.1399-0004.2011.01745.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21696388%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference