Spinocerebellar ataxia with mental retardation (SCA13). (Q36128450)

12 August 2017

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title

Spinocerebellar ataxia with mental retardation (SCA13). (English)

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12 August 2017

main subject

spinocerebellar ataxia

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4

Alexis Brice

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Giovanni Stevanin

object named as

Giovanni Stevanin

series ordinal

1

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Alexandra Durr

series ordinal

2

object named as

Alexandra Durr

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12 August 2017

Nawal Benammar

3

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12 August 2017

language of work or name

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1 January 2005

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12 August 2017

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12 August 2017

volume

4

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12 August 2017

issue

1

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12 August 2017

page(s)

43-46

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

12 August 2017

cites work

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12 December 2020

Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

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12 December 2020

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

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12 December 2020

Allegro, a new computer program for multipoint linkage analysis

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

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12 December 2020

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

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12 December 2020

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

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12 December 2020

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias

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12 December 2020

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

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12 December 2020

Clinical features and classification of inherited ataxias.

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12 December 2020

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

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12 December 2020

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

10.1080/14734220510007923

Identifiers

DOI

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Dimensions Publication ID

12 August 2017

1053409010

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