(Q24813272)

English

Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

4 July 2017

Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes (English)

1 reference

Europe PubMed Central

4 July 2017

0 references

spinocerebellar ataxia type 17

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Christine Zühlke

1

object named as

Christine Zühlke

0 references

author name string

Andreas Dalski

2

1 reference

Europe PubMed Central

4 July 2017

Eberhard Schwinger

3

1 reference

Europe PubMed Central

4 July 2017

Ulrich Finckh

4

1 reference

Europe PubMed Central

4 July 2017

language of work or name

0 references

publication date

1 July 2005

1 reference

Europe PubMed Central

4 July 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

4 July 2017

6

1 reference

Europe PubMed Central

4 July 2017

27

1 reference

Europe PubMed Central

4 July 2017

1

0 references

https://scigraph.springernature.com/pub.10.1186/1471-2350-6-27

0 references

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1177950

7 April 2017

The spinocerebellar ataxias: order emerges from chaos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1177950

28 September 2017

CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1177950

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1177950

28 September 2017

"Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1177950

28 September 2017

The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1177950

28 September 2017

Trinucleotide repeat polymorphism at the human transcription factor IID gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1177950

28 September 2017

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1177950

30 May 2018

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1177950

30 May 2018

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-27

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-27

21 January 2018

Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-27

21 January 2018

Focal dystonia as a presenting sign of spinocerebellar ataxia 17.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-27

21 January 2018

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-27

21 January 2018

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-27

21 January 2018

Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-27

21 January 2018

SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-27

21 January 2018

Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-27

21 January 2018

Reduced penetrance of the Huntington's disease mutation

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-27

21 January 2018

SCA17 homozygote showing Huntington's disease-like phenotype.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-27

21 January 2018

Intergenerational instability and marked anticipation in SCA-17

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-6-27

21 January 2018

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1177950

28 November 2018

Identifiers

10.1186/1471-2350-6-27

1 reference

Europe PubMed Central

4 July 2017

Dimensions Publication ID

0 references

0 references

1 reference

Europe PubMed Central

4 July 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24813272&oldid=1965249605"