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. (Q42951044)

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scientific article published on November 1995

Language	Label	Description	Also known as
English	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.	scientific article published on November 1995

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scholarly article

1 reference

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19 October 2019

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 (English)

1 reference

Europe PubMed Central

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19 October 2019

cerebellar ataxia

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based on heuristic

inferred from title

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based on heuristic

inferred from title

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based on heuristic

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linkage disequilibrium

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based on heuristic

inferred from title

Giovanni Stevanin

1

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19 October 2019

author name string

Cancel G

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19 October 2019

Didierjean O

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19 October 2019

Abbas N

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19 October 2019

Cassa E

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19 October 2019

Feingold J

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19 October 2019

Dürr A

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19 October 2019

Agid Y

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19 October 2019

Brice A

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19 October 2019

language of work or name

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publication date

1 November 1995

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19 October 2019

American Journal of Human Genetics

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19 October 2019

57

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19 October 2019

1247-1250

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19 October 2019

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19 October 2019

Clinical features and classification of inherited ataxias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

The gene for Machado-Joseph disease maps to human chromosome 14q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

Population studies of the fragile X: a molecular approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

A complex mutable polymorphism located within the fragile X gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95, and D4S111 in Northern Ireland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 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=1801382

27 May 2018

The Huntington's disease candidate region exhibits many different haplotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

27 May 2018

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

16 August 2018

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

16 August 2018

Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

16 August 2018

Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801382

16 August 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7485178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci

1 reference

https://pubmed.ncbi.nlm.nih.gov/7485178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7485178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7485178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant cerebellar phenotypes: the genotype has settled the issue

1 reference

https://pubmed.ncbi.nlm.nih.gov/7485178

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

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19 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485178%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

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