Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. (Q48101666)

8 February 2018

title

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

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main subject

spinocerebellar ataxia

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1

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author name string

Naima Bouslam

2

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Stéphane Thobois

3

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Hamid Azzedine

4

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Lucas Ravaux

5

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Anne Boland

6

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Martin Schalling

7

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Emmanuel Broussolle

8

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Alexandra Dürr

9

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Alexis Brice

10

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language of work or name

English

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publication date

1 January 2004

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published in

Annals of Neurology

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volume

55

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issue

1

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page(s)

97-104

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Clinical and genetic aspects of spinocerebellar degeneration

cites work

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Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

21 January 2018

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Dominantly inherited, non-coding microsatellite expansion disorders

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia

21 January 2018

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Spinocerebellar ataxia type 10 in the French population.

21 January 2018

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Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

21 January 2018

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SPTLC1 is mutated in hereditary sensory neuropathy, type 1

21 January 2018

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A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.

21 January 2018

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Direct detection of novel expanded trinucleotide repeats in the human genome

21 January 2018

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Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

21 January 2018

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Microtubule binding by CRIPT and its potential role in the synaptic clustering of PSD-95

21 January 2018

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CRIPT, a novel postsynaptic protein that binds to the third PDZ domain of PSD-95/SAP90

21 January 2018

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Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3.

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias

21 January 2018

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The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.10798

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8 February 2018

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