(Q42659881)

4 November 2017

Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family (English)

1 reference

4 November 2017

Yosr Bouhlal

1

1 reference

4 November 2017

Mourad Zouari

2

1 reference

4 November 2017

Mounir Kefi

3

1 reference

4 November 2017

Christiane Ben Hamida

4

1 reference

4 November 2017

Fayçal Hentati

5

1 reference

4 November 2017

Rim Amouri

6

1 reference

4 November 2017

1 April 2008

1 reference

4 November 2017

Journal of Neurogenetics

1 reference

4 November 2017

22

1 reference

4 November 2017

2

1 reference

4 November 2017

139-148

1 reference

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

4 November 2017

1 reference

https://api.crossref.org/works/10.1080%2F01677060802025233

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060802025233

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060802025233

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060802025233

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060802025233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060802025233

Multiple mutations responsible for frequent genetic diseases in isolated populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060802025233

Electrophysiology and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060802025233

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F01677060802025233

10.1080/01677060802025233

21 January 2018

Identifiers

DOI

1 reference

4 November 2017

1 reference