(Q48011436)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9613852%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families (English)

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12 November 2019

1

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12 November 2019

Patricia Maciel

3

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12 November 2019

Jorge Sequeiros

9

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12 November 2019

Paula Coutinho

2

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12 November 2019

José L. Loureiro

8

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12 November 2019

author name string

C Gaspar

4

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12 November 2019

S Hayes

5

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12 November 2019

A Dias

6

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12 November 2019

J Guimarães

7

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12 November 2019

G A Rouleau

10

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12 November 2019

publication date

1 March 1998

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American Journal of Medical Genetics Part A

12 November 2019

published in

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12 November 2019

volume

81

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12 November 2019

issue

2

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12 November 2019

page(s)

134-138

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Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

12 November 2019

cites work

1 reference

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

21 January 2018

1 reference

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Trinucleotide repeat length instability and age of onset in Huntington's disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

21 January 2018

1 reference

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

21 January 2018

1 reference

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.

21 January 2018

1 reference

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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

21 January 2018

1 reference

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Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C134%3A%3AAID-AJMG3%3E3.0.CO%3B2-W

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C134%3A%3AAID-AJMG3%3E3.0.CO%3B2-W

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C134%3A%3AAID-AJMG3%3E3.0.CO%3B2-W

HIV or zidovudine myopathy?

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980328%2981%3A2%3C134%3A%3AAID-AJMG3%3E3.0.CO%3B2-W

10.1002/(SICI)1096-8628(19980328)81:2<134::AID-AJMG3>3.0.CO;2-W

21 January 2018

Identifiers

DOI

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12 November 2019

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