(Q35888846)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8279460%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8279460%20AND%20SRC:MED&resulttype=core&format=json

autosomal dominant cerebellar ataxia type I

28 October 2019

main subject

0 references

author

Giovanni Stevanin

1

1 reference

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28 October 2019

author name string

Le Guern E

2

1 reference

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28 October 2019

Ravisé N

3

1 reference

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28 October 2019

Chneiweiss H

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8279460%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Dürr A

5

1 reference

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28 October 2019

Cancel G

6

1 reference

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28 October 2019

Vignal A

7

1 reference

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28 October 2019

Boch AL

8

1 reference

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28 October 2019

Ruberg M

9

1 reference

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28 October 2019

Penet C

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8279460%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

language of work or name

English

0 references

publication date

1 January 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8279460%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

28 October 2019

published in

1 reference

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28 October 2019

volume

54

1 reference

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28 October 2019

page(s)

11-20

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28 October 2019

issue

1

1 reference

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Clinical features and classification of inherited ataxias.

28 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

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'.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Easy calculations of lod scores and genetic risks on small computers

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Acceleration of nucleic acid hybridization rate by polyethylene glycol

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Dinucleotide repeat polymorphism at the D14S43 locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Prevention of pre-PCR mis-priming and primer dimerization improves low-copy-number amplifications

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

A second-generation linkage map of the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

Letter: Hereditary ataxia and HL-A genotypes

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918062

A large Japanese family with Machado-Joseph disease: clinical and genetic studies

24 September 2018

1 reference

12 December 2020

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

1 reference

12 December 2020

The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1)

1 reference

12 December 2020

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus

1 reference

12 December 2020

Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing

1 reference

12 December 2020

Report of the Committee on Methods of Linkage Analysis and Reporting

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8279460%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference