Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease. (Q44068407)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

0 references

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Bernard Sablonniere

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

Peggy Nazé

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Isabelle Vuillaume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Alain Destée

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

language of work or name

English

0 references

publication date

1 August 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

328

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

1-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

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

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

The ubiquitin pathway in Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

Evidence for the GluR6 gene associated with younger onset age of Huntington's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

Human GluR6 kainate receptor (GRIK2): molecular cloning, expression, polymorphism, and chromosomal assignment

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

Simple nonisotopic assays for detection of (CAG)n repeats expansions associated with seven neurodegenerative disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8

7 January 2021

10.1016/S0304-3940(02)00231-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference