(Q42037666)

English

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia

scientific article published on April 1997

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

15 October 2017

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia (English)

1 reference

Europe PubMed Central

15 October 2017

spinocerebellar ataxia type 2

1 reference

based on heuristic

inferred from title

author name string

D H Geschwind

1

1 reference

Europe PubMed Central

15 October 2017

S Perlman

2

1 reference

Europe PubMed Central

15 October 2017

C P Figueroa

3

1 reference

Europe PubMed Central

15 October 2017

L J Treiman

4

1 reference

Europe PubMed Central

15 October 2017

S M Pulst

5

1 reference

Europe PubMed Central

15 October 2017

language of work or name

0 references

publication date

1 April 1997

1 reference

Europe PubMed Central

15 October 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

15 October 2017

60

1 reference

Europe PubMed Central

15 October 2017

4

1 reference

Europe PubMed Central

15 October 2017

842-850

1 reference

Europe PubMed Central

15 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Population genetics of trinucleotide repeat polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Trinucleotide repeats that expand in human disease form hairpin structures in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Machado-Joseph disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Correlation between CAG repeat length and clinical features in Machado-Joseph disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Mechanisms of DNA expansion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

5 June 2018

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

17 August 2018

Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

17 August 2018

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

17 August 2018

Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

17 August 2018

SCA2 is not a major locus for ADCA type I in French families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

2 December 2018

Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

2 December 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712476

2 December 2018

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Linkage study of hereditary spinocerebellar ataxia, and probable correlation for the loci to the disease phenotypes]

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant cerebellar phenotypes: the genotype will settle the issue

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anticipation in spinocerebellar ataxia type 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant cerebellar ataxia with dementia: evidence for a fourth disease locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/9106530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

15 October 2017

1 reference

Europe PubMed Central

15 October 2017

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=Q42037666&oldid=1932422361"