(Q28300848)

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

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22 October 2019

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

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22 October 2019

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cerebellar ataxia

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William B. Dobyns

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22 October 2019

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22 October 2019

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Zhuchenko O

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22 October 2019

Bailey J

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22 October 2019

Bonnen P

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22 October 2019

Ashizawa T

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22 October 2019

Stockton DW

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22 October 2019

Amos C

6

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22 October 2019

Subramony SH

8

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22 October 2019

Lee CC

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22 October 2019

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1 January 1997

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22 October 2019

Nature Genetics

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22 October 2019

15

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22 October 2019

1

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22 October 2019

62-69

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22 October 2019

https://scigraph.springernature.com/pub.10.1038/ng0197-62

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

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21 January 2018

The expanding world of trinucleotide repeats

1 reference

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

1 reference

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7 January 2021

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1 reference

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7 January 2021

based on heuristic

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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

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Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

1 reference

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7 January 2021

based on heuristic

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Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

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Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

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7 January 2021

based on heuristic

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

inferred from DOI database lookup

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

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Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

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Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

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Gain of glutamines, gain of function?

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

inferred from DOI database lookup

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

inferred from DOI database lookup

Primary structure of a calcium channel that is highly expressed in the rat cerebellum

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

inferred from DOI database lookup

Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

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Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

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Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

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

1 reference

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7 January 2021

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Distribution and functional significance of the P-type, voltage-dependent Ca2+ channels in the mammalian central nervous system

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

inferred from DOI database lookup

Strategies for multilocus linkage analysis in humans

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

inferred from DOI database lookup

Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus.

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant cerebellar ataxia with dementia: evidence for a fourth disease locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

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based on heuristic

inferred from DOI database lookup

A gene for familial hemiplegic migraine maps to chromosome 19

1 reference

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7 January 2021

based on heuristic

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Familial hemiplegic migraine, nystagmus, and cerebellar atrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

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inferred from DOI database lookup

Structure and function of voltage-gated ion channels

1 reference

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Regulation of the cloned L-type cardiac calcium channel by cyclic-AMP-dependent protein kinase

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Localization and functional properties of a rat brain alpha 1A calcium channel reflect similarities to neuronal Q- and P-type channels

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

inferred from DOI database lookup

The naming of voltage-gated calcium channels

1 reference

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7 January 2021

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inferred from DOI database lookup

Distinctive pharmacology and kinetics of cloned neuronal Ca2+ channels and their possible counterparts in mammalian CNS neurons.

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-62

7 January 2021

based on heuristic

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P-type calcium channels in rat central and peripheral neurons

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Absence epilepsy in tottering mutant mice is associated with calcium channel defects

1 reference

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Block of Ca channels in rat central neurons by the spider toxin omega-Aga-IIIA.

1 reference

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A simple and very efficient method for generating cDNA libraries

1 reference

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10.1038/NG0197-62

2 references

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22 October 2019

release_j2xvqlecz5fqvbf7zwhy2xathq

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24 November 2022

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8988170%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

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