De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia (Q28271794)

object named as

J C Jen

0 references

Stanley F Nelson

object named as

S F Nelson

0 references

author name string

Q Yue

0 references

M M Thwe

American Journal of Medical Genetics Part A

0 references

language of work or name

English

0 references

publication date

26 May 1998

0 references

published in

0 references

volume

0 references

issue

0 references

page(s)

298-301

0 references

cites work

Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Late cortical cerebellar atrophy. Clinical and oculographic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Structure and function of voltage-gated ion channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Molecular basis of proton block of L-type Ca2+ channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Hereditary paroxysmal ataxia: Response to acetazolamide

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Calcium channel characteristics conferred on the sodium channel by single mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Programmed cell death: its possible contribution to neurotoxicity mediated by calcium channel antagonists

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Topographic variabilities of immunoreactivity to subunit c of mitochondrial ATP synthase and lectin binding in late infantile neuronal ceroid-lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Pore loops: an emerging theme in ion channel structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Primary structure and functional expression from complementary DNA of a brain calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980526%2977%3A4%3C298%3A%3AAID-AJMG9%3E3.0.CO%3B2-J

10.1002/(SICI)1096-8628(19980526)77:4<298::AID-AJMG9>3.0.CO;2-J

21 January 2018

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

release_r6ldhajk2fgndbvso5it4brdae

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/r6ldhajk2fgndbvso5it4brdae

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

9600739

1 reference

Consolidated OpenCitations Corpus – April 2017