(Q95814006)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

title

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

main subject

parkinsonian syndrome

1 reference

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Nicholas W. Wood

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

Kailash Phatechand Bhatia

30 May 2020

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

author name string

Maja Kojovic

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Una-Marie Sheerin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Ignacio Rubio-Agusti

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Anirban Saha

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Vaneesha Gibbons

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Rodger Palmer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Henry Houlden

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

John Hardy

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

publication date

1 December 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

issue

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

page(s)

1827-1829

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

30 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471618

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

24 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471618

Expanding the clinical phenotype of SNCA duplication carriers

24 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471618

Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.

24 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471618

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

24 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471618

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

24 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471618

alpha-Synuclein locus triplication causes Parkinson's disease

24 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471618

24 February 2021

Identifiers

DOI

10.1002/MDS.25199

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23283657%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

0 references

1 reference