(Q56986748)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

main subject

spinocerebellar ataxia

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

author name string

Y Zhao

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

I Ng

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

E K Tan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

H Y Law

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

M C Wong

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

publication date

1 September 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

6 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

213

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

issue

1-2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

page(s)

25-28

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900129-1

Genetic testing in spinocerebellar ataxias: defining a clinical role

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900129-1

Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900129-1

Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900129-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900129-1

Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900129-1

Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900129-1

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900129-1

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900129-1

Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900129-1

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900129-1

10.1016/S0022-510X(03)00129-1

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12873751%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference