(Q57950197)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

main subject

Brazil

0 references

Machado-Joseph disease

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Anabela Ferro

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Jorge Sequeiros

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

6

R Giugliani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

L B Jardim

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

M L Pereira

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

language of work or name

English

0 references

publication date

1 October 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

Acta Neurologica Scandinavica

11 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

224-231

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.00020.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.1600-0404.2001.00020.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.1600-0404.2001.00020.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.1600-0404.2001.00020.X

Transmission distortion of the mutant alleles in spinocerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.00020.X

Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) Families

21 January 2018

2 references

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.00020.X

21 January 2018

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.00020.X

7 January 2021

Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.00020.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.00020.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.00020.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.1600-0404.2001.00020.X

7 January 2021

10.1034/J.1600-0404.2001.00020.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11589651%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference