(Q35644427)

English

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

scientific article published on October 1995

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

1 reference

based on heuristic

inferred from title

spinocerebellar ataxia

1 reference

based on heuristic

inferred from title

phenotypic heterogeneity

1 reference

based on heuristic

inferred from title

10

object named as

Agid Y

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Hervé Chneiweiss

1 reference

ORCID Public Data File 2021

author name string

Cancel G

1

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Abbas N

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Stevanin G

3

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Dürr A

4

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Chneiweiss H

5

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Néri C

6

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Duyckaerts C

7

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Penet C

8

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Cann HM

9

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

language of work or name

0 references

publication date

1 October 1995

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

57

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

809-816

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Epidemiology and clinical aspects of Machado-Joseph disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

27 July 2018

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=1801502

27 July 2018

Trinucleotide repeat length instability and age of onset 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=1801502

27 July 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=1801502

27 July 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=1801502

27 July 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=1801502

27 July 2018

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

27 July 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=1801502

27 July 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=1801502

27 July 2018

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

27 July 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=1801502

27 July 2018

Gametic but not somatic instability of CAG repeat length 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=1801502

27 July 2018

Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

27 July 2018

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

27 July 2018

Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

27 July 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=1801502

27 July 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=1801502

27 July 2018

Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

27 July 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=1801502

27 July 2018

Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

27 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

27 July 2018

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

27 July 2018

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

27 July 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=1801502

25 September 2018

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

25 September 2018

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801502

25 September 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=1801502

25 September 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=1801502

15 November 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/7573040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7573040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds

1 reference

https://pubmed.ncbi.nlm.nih.gov/7573040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7573040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

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