(Q57950160)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

main subject

Machado-Joseph disease

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Jorge Sequeiros

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

7

R Giugliani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

L Jardim

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M L Pereira

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M do Céu Moreira

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

P Mendonça

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

language of work or name

English

0 references

publication date

1 March 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

Acta Neurologica Scandinavica

1 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

107

1 reference

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1 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

211-214

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

1 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

Protein precipitation: a common etiology in neurodegenerative disorders?

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

Genetic classification of primary neurodegenerative disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

Machado-Joseph disease and SCA3: the genotype meets the phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

Evidence that allelic variants of the spinocerebellar ataxia type 2 gene influence susceptibility to multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

7 January 2021

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://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

7 January 2021

Autosomal dominant cerebellar phenotypes: the genotype has settled the issue

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

7 January 2021

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

7 January 2021

The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00046.X

7 January 2021

10.1034/J.1600-0404.2003.00046.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12614315%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference