The highly heterogeneous spinocerebellar ataxias: from genes to targets for therapeutic intervention. (Q45289369)

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5 January 2020

title

The highly heterogeneous spinocerebellar ataxias: from genes to targets for therapeutic intervention (English)

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5 January 2020

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418682%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Antoni Matilla-Dueñas

series ordinal

1

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11 December 2017

publication date

1 January 2008

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418682%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418682%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

7

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5 January 2020

issue

2

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5 January 2020

page(s)

97-100

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https://scigraph.springernature.com/pub.10.1007/s12311-008-0020-5

5 January 2020

exact match

0 references

cites work

A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS12311-008-0020-5

Clinical features and genetic analysis of a new form of spinocerebellar ataxia

21 January 2018

2 references

Crossref

https://api.crossref.org/works/10.1007%2FS12311-008-0020-5

21 January 2018

12 December 2020

A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.

1 reference

12 December 2020

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

1 reference

12 December 2020

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

1 reference

12 December 2020

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1

1 reference

12 December 2020

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

1 reference

12 December 2020

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

1 reference

12 December 2020

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

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

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

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

1 reference

12 December 2020

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1

1 reference

12 December 2020

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

1 reference

12 December 2020

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

1 reference

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.

1 reference

12 December 2020

Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.

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

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinocerebellar ataxia with sensory neuropathy (SCA25)

1 reference

12 December 2020

Molecular pathogenesis of spinocerebellar ataxias.

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinocerebellar ataxia type 15.

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

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

1 reference

12 December 2020

A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

1 reference

12 December 2020

10.1007/S12311-008-0020-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418682%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 January 2020

1011372653

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1 reference