(Q57949748)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19676102%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2) (English)

1 reference

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spinocerebellar ataxia type 2

5 February 2020

main subject

1 reference

2

1 reference

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5 February 2020

Isabel Alonso

3

1 reference

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Maria Luiza Saraiva-Pereira

5 February 2020

5

1 reference

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5 February 2020

Paula Coutinho

7

1 reference

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5 February 2020

Jorge Sequeiros

8

1 reference

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5 February 2020

Isabel Silveira

9

1 reference

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5 February 2020

6

Laura Bannach Jardim

1 reference

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5 February 2020

author name string

Eliana Marisa Ramos

1

1 reference

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5 February 2020

Vanessa E Emmel

4

1 reference

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5 February 2020

publication date

1 March 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19676102%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

5 February 2020

published in

1 reference

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5 February 2020

volume

153B

1 reference

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5 February 2020

issue

2

1 reference

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5 February 2020

page(s)

524-531

1 reference

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Oligoproline effects on polyglutamine conformation and aggregation

5 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

Critical role of the proline-rich region in Huntingtin for aggregation and cytotoxicity in yeast.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

Late-onset SCA2: 33 CAG repeats are sufficient to cause disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

Effects of intracellular expression of anti-huntingtin antibodies of various specificities on mutant huntingtin aggregation and toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: clinical implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

Machado-Joseph disease in a Sicilian-American family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31013

21 January 2018

Identifiers

DOI

10.1002/AJMG.B.31013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19676102%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference