Infantile childhood onset of spinocerebellar ataxia type 2. (Q48859574)

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14 February 2020

title

Infantile childhood onset of spinocerebellar ataxia type 2 (English)

1 reference

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14 February 2020

main subject

spinocerebellar ataxia

1 reference

1 reference

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14 February 2020

Filippo Maria Santorelli

1 reference

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14 February 2020

1 reference

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14 February 2020

Roberto Di Fabio

1 reference

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14 February 2020

Martina Balestri

1 reference

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14 February 2020

Alessandra Tessa

1 reference

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14 February 2020

Francesco Pierelli

1 reference

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14 February 2020

Carlo Casali

1 reference

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14 February 2020

publication date

1 June 2012

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14 February 2020

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14 February 2020

volume

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14 February 2020

issue

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14 February 2020

page(s)

526-530

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Classification of the hereditary ataxias and paraplegias

14 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

A comprehensive review of spinocerebellar ataxia type 2 in Cuba

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

Trinucleotide repeat expansion in neurological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

Molecular pathogenesis of spinocerebellar ataxias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

Repeat instability: mechanisms of dynamic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

Spinocerebellar ataxia type 2 presenting with cognitive regression in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-011-0315-9

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia

21 January 2018

1 reference

12 December 2020

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study.

1 reference

12 December 2020

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

1 reference

12 December 2020

GGA*TCC-interrupted triplets in long GAA*TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities

1 reference

12 December 2020

10.1007/S12311-011-0315-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21975856%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21975856%20AND%20SRC:MED&resulttype=core&format=json