Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations. (Q48634807)

13 February 2018

title

Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations. (English)

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13 February 2018

author

Jorge Sequeiros

4

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13 February 2018

author name string

Joanne E Martindale

1

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13 February 2018

Sara Seneca

2

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13 February 2018

Stefan Wieczorek

3

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13 February 2018

publication date

1 August 2012

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13 February 2018

published in

Human Mutation

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13 February 2018

volume

33

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13 February 2018

issue

9

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13 February 2018

page(s)

1359-1365

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13 February 2018

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

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

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

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Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

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Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

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'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

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Diseases of unstable repeat expansion: mechanisms and common principles

21 January 2018

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Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms

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Repeat instability as the basis for human diseases and as a potential target for therapy

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Case control analysis of repeat expansion size in ataxia

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Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?

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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

21 January 2018

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

21 January 2018

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

21 January 2018

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Discrepancies in reporting the CAG repeat lengths for Huntington's disease

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Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing.

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Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation

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

21 January 2018

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

21 January 2018

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A general method for the detection of large CAG repeat expansions by fluorescent PCR

21 January 2018

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

21 January 2018

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

21 January 2018

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Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

21 January 2018

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7 January 2021

The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population

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7 January 2021

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

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7 January 2021

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance

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7 January 2021

Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22156

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13 February 2018

PubMed ID

22753119

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13 February 2018