(Q39412774)

English

Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects

scientific article published on 14 February 2001

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects (English)

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

Matthew J. Farrer

8

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

19

object named as

A Brice

0 references

Nicholas W. Wood

object named as

N Wood

17

0 references

18

object named as

Y Agid

1 reference

Europe PubMed Central

11 September 2017

PMC publication ID

14

object named as

G Meco

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

5

object named as

A Dürr

1 reference

Europe PubMed Central

11 September 2017

PMC publication ID

Christine Tranchant

1 reference

ORCID Public Data File 2021

Sergey Illarioshkin

1 reference

ORCID Public Data File 2021

Monique Breteler

16

object named as

M M Breteler

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

Christine Brefel-Courbon

12

object named as

C Brefel-Courbon

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

6

object named as

G De Michele

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

author name string

M Periquet

1

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

C Lücking

2

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

J Vaughan

3

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

V Bonifati

4

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

M Horstink

7

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

S N Illarioshkin

9

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

P Pollak

10

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

M Borg

11

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

P Denefle

13

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

T Gasser

15

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

French Parkinson's Disease Genetics Study Group. The European Consortium on Genetic Susceptibility in Parkinson's Disease

20

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

language of work or name

0 references

publication date

14 February 2001

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

68

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

3

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

617-626

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

Impact of transposable elements on the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

11 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

11 September 2017

Alu repeats and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

11 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

11 September 2017

Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

11 September 2017

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

11 September 2017

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

11 September 2017

Ageing and Parkinson's disease: substantia nigra regional selectivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

11 September 2017

Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

17 June 2018

Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Gro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

17 June 2018

The ubiquitin pathway in Parkinson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

17 June 2018

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

17 June 2018

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

17 June 2018

Familial juvenile parkinsonism: clinical and pathologic study in a family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

17 June 2018

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

17 June 2018

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

17 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

17 June 2018

Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

21 August 2018

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

21 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

21 August 2018

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274475

21 August 2018

Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetics of Parkinson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/11179010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 September 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q39412774&oldid=2084475685"