Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. (Q34329735)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20179748%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias (English)

1 reference

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18 January 2020

1 reference

1

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18 January 2020

author name string

Sara Seneca

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20179748%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Joanne Martindale

series ordinal

3

1 reference

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18 January 2020

publication date

24 February 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20179748%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

18 January 2020

published in

1 reference

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18 January 2020

volume

18

1 reference

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18 January 2020

issue

11

1 reference

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18 January 2020

page(s)

1188-1195

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20179748%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.10

18 January 2020

exact match

0 references

cites work

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An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

6 July 2018

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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

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

6 July 2018

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

6 July 2018

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Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

6 July 2018

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

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27 October 2018

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27 October 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/20179748

12 December 2020

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/20179748

12 December 2020

inferred from PubMed ID database lookup

Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal compromise

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20179748

12 December 2020

inferred from PubMed ID database lookup

Epidemiology and population genetics of degenerative ataxias

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.10

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2010.10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20179748%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20179748%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference