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Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
title
Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
main subject
Huntington's disease
0 references
author
Florence Pasquier
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
Bernard Sablonniere
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
author name string
Peggy Nazé
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
Isabelle Vuillaume
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
Alain Destée
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
language of work or name
English
0 references
publication date
1 August 2002
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
published in
Neuroscience Letters
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
volume
328
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
page(s)
1-4
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
cites work
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The ubiquitin pathway in Parkinson's disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence for the GluR6 gene associated with younger onset age of Huntington's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human GluR6 kainate receptor (GRIK2): molecular cloning, expression, polymorphism, and chromosomal assignment
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Simple nonisotopic assays for detection of (CAG)n repeats expansions associated with seven neurodegenerative disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0304-3940%2802%2900231-8
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0304-3940(02)00231-8
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
PubMed ID
12123845
1 reference
stated in
Europe PubMed Central
PubMed ID
12123845
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12123845%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
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