(Q48721172)

14 February 2018

title

Absence of spinocerebellar ataxia type 3/Machado-Joseph disease within ataxic patients in the Czech population (English)

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14 February 2018

main subject

Czech Republic

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spinocerebellar ataxia

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1

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14 February 2018

author name string

A Zumrova

2

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14 February 2018

V Matoska

3

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14 February 2018

T Marikova

4

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14 February 2018

S Krilova

5

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14 February 2018

A Boday

6

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14 February 2018

B Singh

7

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14 February 2018

P Goetz

8

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14 February 2018

publication date

1 November 2005

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14 February 2018

European Journal of Neurology

published in

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14 February 2018

volume

12

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14 February 2018

issue

11

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14 February 2018

page(s)

851-857

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14 February 2018

Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7.

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

21 January 2018

1 reference

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Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

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/10.1111%2FJ.1468-1331.2005.01090.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

21 January 2018

1 reference

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Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

21 January 2018

1 reference

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SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder

21 January 2018

1 reference

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

21 January 2018

1 reference

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Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

21 January 2018

1 reference

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Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

21 January 2018

1 reference

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Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

Ataxin-3 is transported into the nucleus and associates with the nuclear matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

Heterogeneous intracellular localization and expression of ataxin-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

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/10.1111%2FJ.1468-1331.2005.01090.X

Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

The gene for Machado–Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2005.01090.X

10.1111/J.1468-1331.2005.01090.X

21 January 2018

Identifiers

DOI

1 reference

14 February 2018

release_zdehepxjrbdg7fb3jmmhgjuu2m

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zdehepxjrbdg7fb3jmmhgjuu2m

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

14 February 2018