(Q37073913)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

title

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

0 references

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

J. Michael Andresen

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Jane S. Paulsen

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Bernhard Landwehrmeyer

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

20

James Gusella

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

26

Marcy MacDonald

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

24

Steven Hersch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

40

Ira Shoulson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

19

Jack B Penney

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

7

Karen Marder

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

5

Carol Moskowitz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

38

Juan Sanchez Ramos

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

42

Andrew Feigin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

50

Leon Dure

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

56

Penelope Hogarth

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

1

Nancy S Wexler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

10

Javier Gayán

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

11

Denise Brocklebank

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

29

David E Housman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

54

Denise Krch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

author name string

Judith Lorimer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Julie Porter

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Fidela Gomez

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Edith Shackell

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Graciela Penchaszadeh

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Simone A Roberts

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Lon R Cardon

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Jacqueline Gray

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Stephen R Dlouhy

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Sandra Wiktorski

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Marion E Hodes

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

P Michael Conneally

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Jang-Ho Cha

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Michael Irizarry

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Diana Rosas

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Zane Hollingsworth

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Anne B Young

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Margot Mieja De Young

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Ernesto Bonilla

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Theresa Stillings

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Americo Negrette

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

S Robert Snodgrass

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Maria Dolores Martinez-Jaurrieta

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Maria A Ramos-Arroyo

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Jacqueline Bickham

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Frederick Marshall

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Gustavo J Rey

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Norman Arnheim

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Amarilis Acevedo-Cruz

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Leticia Acosta

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Jose Alvir

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Kenneth Fischbeck

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Leslie M Thompson

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Angela Young

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Christopher J O'Brien

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Adam Brickman

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Shelley Peery

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Donald S Higgins

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

U.S.-Venezuela Collaborative Research Project

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

language of work or name

English

0 references

publication date

1 March 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

24 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

volume

101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

page(s)

3498-3503

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

24 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Huntington disease expansion mutations in humans can occur before meiosis is completed

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Candidate DNA replication initiation regions at human trinucleotide repeat disease loci

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Recent advances in Huntington's disease: implications for experimental therapeutics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Onset and pre-onset studies to define the Huntington's disease natural history.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Family and molecular data for a fine analysis of age at onset in Huntington disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Huntington's disease: the challenge for cell biologists

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

A general test of association for quantitative traits in nuclear families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Trinucleotide repeat length instability and age of onset in Huntington's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

A polymorphic DNA marker genetically linked to Huntington's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Huntington's disease in Venezuela: neurologic features and functional decline

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Huntington's disease in Venezuela: 7 years of follow-up on symptomatic and asymptomatic individuals

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Familial influence on age of onset among siblings with Huntington disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Direct amplification of the CAG repeat of huntingtin without amplification of CCG.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

Pedigree tests of transmission disequilibrium

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=373491

4 December 2018

Identifiers

DOI

10.1073/PNAS.0308679101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14993615%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

1 reference