(Q54705349)

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

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Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

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

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

spinocerebellar ataxia

1 reference

based on heuristic

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author name string

Peter Bauer

1

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

Josef Kraus

2

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

Vaclav Matoska

3

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

Martina Brouckova

4

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

Alena Zumrova

5

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

Petr Goetz

6

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

publication date

1 August 2004

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Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

Journal of Neurology

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Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

251

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Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

8

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

1023-1024

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

1 reference

https://pubmed.ncbi.nlm.nih.gov/15316811

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15316811

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15316811

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15316811

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

1 reference

https://pubmed.ncbi.nlm.nih.gov/15316811

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/15316811

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

1 reference

https://pubmed.ncbi.nlm.nih.gov/15316811

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00415-004-0482-4

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 June 2018

http://europepmc.org/abstract/MED/15316811

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