(Q38904135)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12039660%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12039660%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

4

1 reference

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9 November 2019

author name string

Ali Benomar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12039660%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Mohammed Yahyaoui

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12039660%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Farid Meggouh

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12039660%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Mohammed Boutchich

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12039660%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Naima Bouslam

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12039660%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Abdelhaq Zaim

7

1 reference

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9 November 2019

Michèle Schmitt

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12039660%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Halima Belaidi

9

1 reference

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9 November 2019

Reda Ouazzani

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12039660%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Taïb Chkili

11

1 reference

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9 November 2019

Michel Koenig

12

1 reference

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9 November 2019

publication date

1 June 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12039660%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

9 November 2019

published in

1 reference

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9 November 2019

volume

198

1 reference

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9 November 2019

issue

1-2

1 reference

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9 November 2019

page(s)

25-29

1 reference

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Mapping of mutation causing Friedreich's ataxia to human chromosome 9

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900057-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900057-6

Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900057-6

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900057-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900057-6

Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900057-6

Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900057-6

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900057-6

Clinical and genetic abnormalities in patients with Friedreich's ataxia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900057-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900057-6

10.1016/S0022-510X(02)00057-6

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12039660%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference