(Q28256940)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403486%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? (English)

1 reference

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8 November 2019

0 references

1 reference

5

1 reference

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8 November 2019

author name string

Schöls L

1

1 reference

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8 November 2019

Amoiridis G

2

1 reference

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8 November 2019

Büttner T

3

1 reference

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8 November 2019

Przuntek H

4

1 reference

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8 November 2019

Riess O

6

1 reference

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8 November 2019

language of work or name

English

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publication date

1 December 1997

1 reference

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8 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403486%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

volume

42

1 reference

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8 November 2019

issue

6

1 reference

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8 November 2019

page(s)

924-932

1 reference

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Letter: Hereditary ataxia and HL-A genotypes

8 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

The gene for Machado-Joseph disease maps to human chromosome 14q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

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%2FANA.410420615

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

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%2FANA.410420615

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410420615

21 January 2018

Identifiers

DOI

10.1002/ANA.410420615

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403486%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017