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De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia
scientific article
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title
De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia
(English)
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main subject
episodic ataxia
1 reference
based on heuristic
inferred from title
author
Robert W. Baloh
series ordinal
5
object named as
R W Baloh
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Joanna C Jen
series ordinal
2
object named as
J C Jen
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Stanley F Nelson
series ordinal
4
object named as
S F Nelson
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author name string
Q Yue
series ordinal
1
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M M Thwe
series ordinal
3
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language of work or name
English
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publication date
26 May 1998
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published in
American Journal of Medical Genetics Part A
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volume
77
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issue
4
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page(s)
298-301
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cites work
Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Late cortical cerebellar atrophy. Clinical and oculographic features
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Structure and function of voltage-gated ion channels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Molecular basis of proton block of L-type Ca2+ channels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Hereditary paroxysmal ataxia: Response to acetazolamide
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Calcium channel characteristics conferred on the sodium channel by single mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Programmed cell death: its possible contribution to neurotoxicity mediated by calcium channel antagonists
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Topographic variabilities of immunoreactivity to subunit c of mitochondrial ATP synthase and lectin binding in late infantile neuronal ceroid-lipofuscinosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Pore loops: an emerging theme in ion channel structure
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Primary structure and functional expression from complementary DNA of a brain calcium channel
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Progressive ataxia due to a missense mutation in a calcium-channel gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19980526)77:4<298::AID-AJMG9>3.0.CO;2-J
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3417403
Fatcat ID
release_r6ldhajk2fgndbvso5it4brdae
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/r6ldhajk2fgndbvso5it4brdae
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
OpenCitations bibliographic resource ID
3417403
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3417403
PubMed publication ID
9600739
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3417403
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