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English
Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
title
Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
main subject
spinocerebellar ataxia
1 reference
based on heuristic
inferred from title
author
Huda Zoghbi
series ordinal
5
object named as
Huda Y. Zoghbi
0 references
Huda Zoghbi
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
author name string
Tohru Matsuura
series ordinal
1
0 references
Madhureeta Achari
series ordinal
2
0 references
Mehrdad Khajavi
series ordinal
3
0 references
Linda L. Bachinski
series ordinal
4
0 references
Tetsuo Ashizawa
series ordinal
6
0 references
T Matsuura
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
M Achari
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
M Khajavi
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
L L Bachinski
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
T Ashizawa
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
publication date
March 1999
0 references
1 March 1999
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
published in
Annals of Neurology
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
volume
45
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
page(s)
407-411
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
cites work
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
1 reference
stated in
Crossref
reference URL
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retrieved
21 January 2018
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D
retrieved
21 January 2018
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
1 reference
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Crossref
reference URL
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21 January 2018
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D
retrieved
21 January 2018
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
1 reference
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Crossref
reference URL
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21 January 2018
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
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reference URL
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21 January 2018
Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D
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21 January 2018
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
1 reference
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Crossref
reference URL
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21 January 2018
A comprehensive genetic map of the human genome based on 5,264 microsatellites
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D
retrieved
21 January 2018
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D
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21 January 2018
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1.
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21 January 2018
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D
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21 January 2018
Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch.
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21 January 2018
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D
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21 January 2018
Absence epilepsy in tottering mutant mice is associated with calcium channel defects
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21 January 2018
Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse
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reference URL
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21 January 2018
Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice.
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21 January 2018
The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.
1 reference
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reference URL
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retrieved
21 January 2018
Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D
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21 January 2018
Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor.
1 reference
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Crossref
reference URL
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retrieved
21 January 2018
Identifiers
DOI
10.1002/1531-8249(199903)45:3<407::AID-ANA21>3.0.CO;2-D
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
PubMed publication ID
10072060
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10072060
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 November 2019
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