(Q34820993)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18769991%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

title

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18769991%20AND%20SRC:MED&resulttype=core&format=json

spinocerebellar ataxia type 28

13 January 2020

main subject

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18769991%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Daniela Di Bella

3

1 reference

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13 January 2020

Marco Seri

5

1 reference

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13 January 2020

Cinzia Gellera

6

1 reference

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13 January 2020

Franco Taroni

8

1 reference

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13 January 2020

1

Caterina Mariotti

1 reference

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13 January 2020

author name string

Claudia Cagnoli

4

1 reference

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13 January 2020

Stefano Di Donato

7

1 reference

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13 January 2020

publication date

1 January 2008

1 reference

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13 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18769991%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

volume

7

1 reference

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13 January 2020

issue

2

1 reference

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13 January 2020

page(s)

184-188

1 reference

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https://scigraph.springernature.com/pub.10.1007/s12311-008-0053-9

13 January 2020

exact match

0 references

cites work

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

1 reference

12 December 2020

Integration of text- and data-mining using ontologies successfully selects disease gene candidates

1 reference

12 December 2020

Pathways to motor incoordination: the inherited ataxias

1 reference

12 December 2020

An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor dom

1 reference

12 December 2020

Mitochondrial disorders

1 reference

12 December 2020

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

1 reference

12 December 2020

Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.

1 reference

12 December 2020

Direct detection of novel expanded trinucleotide repeats in the human genome

1 reference

12 December 2020

Molecular pathogenesis of spinocerebellar ataxias.

1 reference

12 December 2020

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

1 reference

12 December 2020

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

12 December 2020

An overview of the patient with ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

1 reference

12 December 2020