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

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18 January 2020

title

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

1 reference

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

18 January 2020

1 reference

1

1 reference

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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 AND SRC:MED&resulttype=core&format=json

18 January 2020

Joanne Martindale

series ordinal

3

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

18 January 2020

publication date

24 February 2010

1 reference

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

European Journal of Human Genetics

18 January 2020

published in

1 reference

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

18 January 2020

volume

18

1 reference

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

18 January 2020

issue

11

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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 AND SRC:MED&resulttype=core&format=json

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

18 January 2020

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1 reference

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6 July 2018

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6 July 2018

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Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers

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Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia

6 July 2018

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SCA2 may present as levodopa-responsive parkinsonism

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SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6

6 July 2018

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Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats

6 July 2018

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

6 July 2018

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High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

6 July 2018

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

6 July 2018

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

6 July 2018

1 reference

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

6 July 2018

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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

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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Correlation between CAG repeat length and clinical features in Machado-Joseph disease

6 July 2018

1 reference

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Association of spinocerebellar ataxia type 3 and spinocerebellar ataxia type 8 microsatellite expansions: genetic counseling implications.

6 July 2018

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

27 October 2018

1 reference

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ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'.

27 October 2018

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Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability

27 October 2018

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Preimplantation genetic diagnosis for Huntington's disease with exclusion testing.

27 October 2018

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Polymorphisms in the CAG repeat--a source of error in Huntington disease DNA testing

27 October 2018

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A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

27 October 2018

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Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias

27 October 2018

1 reference

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A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1

27 October 2018

1 reference

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/EJHG.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 AND SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

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

18 January 2020

PubMed publication ID

20179748

1 reference