Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I. (Q35889184)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198139%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I (English)

1 reference

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27 October 2019

main subject

spinocerebellar ataxia

1 reference

C Jodice

1

1 reference

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27 October 2019

P Malaspina

2

1 reference

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27 October 2019

F Persichetti

3

1 reference

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27 October 2019

A Novelletto

4

1 reference

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27 October 2019

M Spadaro

5

1 reference

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27 October 2019

P Giunti

6

1 reference

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27 October 2019

C Morocutti

7

1 reference

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27 October 2019

L Terrenato

8

1 reference

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27 October 2019

A E Harding

9

1 reference

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27 October 2019

M Frontali

10

1 reference

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27 October 2019

language of work or name

English

0 references

publication date

1 June 1994

1 reference

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American Journal of Human Genetics

27 October 2019

published in

1 reference

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27 October 2019

volume

54

1 reference

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27 October 2019

issue

6

1 reference

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27 October 2019

page(s)

959-965

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Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1.

27 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=1918191

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918191

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918191

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918191

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918191

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918191

Genetic aspects of autosomal dominant late onset cerebellar ataxia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918191

Improved double-stranded DNA sequencing using the linear polymerase chain reaction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918191

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918191

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918191

HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918191

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918191

Linkage studies in spinocerebellar ataxia (SCA)

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8198139

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8198139

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8198139

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198139%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference