(Q31859176)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

0 references

parkinsonian syndrome

1 reference

inferred from title

author

Nicolas Pineda Trujillo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

David A. Pineda

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

L G Carvajal-Carmona

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

O Buriticá

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

S Moreno

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

C Uribe

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M Toro

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

F García

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

W Arias

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

G Bedoya

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

F Lopera

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

A Ruiz-Linares

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 February 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

298

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

87-90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11163284%20AND%20SRC:MED&resulttype=core&format=json

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

The genetics of Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

Association between early-onset Parkinson's disease and mutations in the parkin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

Etiology and pathogenesis of Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

Familial juvenile parkinsonism: clinical and pathologic study in a family

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

1 reference

7 January 2021

Population choice in mapping genes for complex diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2800%2901733-X

7 January 2021