Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy (Q56909155)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy (English)

1 reference

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11 November 2019

main subject

spinocerebellar ataxia

1 reference

5

Huda Y. Zoghbi

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Huda Zoghbi

5

1 reference

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11 November 2019

author name string

Tohru Matsuura

1

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Madhureeta Achari

2

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Mehrdad Khajavi

3

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Linda L. Bachinski

4

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Tetsuo Ashizawa

6

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T Matsuura

1

1 reference

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11 November 2019

M Achari

2

1 reference

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11 November 2019

M Khajavi

3

1 reference

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11 November 2019

L L Bachinski

4

1 reference

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11 November 2019

T Ashizawa

6

1 reference

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11 November 2019

publication date

March 1999

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1 March 1999

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11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

45

1 reference

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11 November 2019

issue

3

1 reference

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11 November 2019

page(s)

407-411

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

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

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%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

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%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

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%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

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%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

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%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

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%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199903%2945%3A3%3C407%3A%3AAID-ANA21%3E3.0.CO%3B2-D

10.1002/1531-8249(199903)45:3<407::AID-ANA21>3.0.CO;2-D

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072060%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference