(Q51030642)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630171%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome (English)

1 reference

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29 February 2020

1 reference

2

1 reference

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29 February 2020

Antonio Federico

5

1 reference

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29 February 2020

author name string

Alessandro Malandrini

1

1 reference

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29 February 2020

Carla Battisti

3

1 reference

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29 February 2020

Gianna Berti

4

1 reference

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29 February 2020

language of work or name

English

0 references

publication date

29 April 2013

1 reference

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29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630171%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

28

1 reference

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29 February 2020

issue

12

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29 February 2020

page(s)

1751-1752

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Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity

29 February 2020

cites work

1 reference

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

21 January 2018

1 reference

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

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

21 January 2018

1 reference

Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.25470

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630171%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference