(Q40525527)

21 September 2017

title

Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene (English)

1 reference

21 September 2017

Malaysian Siblings with Friedreich Ataxia and Chorea: A Novel Deletion in the Frataxin Gene (English)

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Siân D Spacey

1

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21 September 2017

Blazej I Szczygielski

2

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21 September 2017

Sean P Young

3

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21 September 2017

Juliette Hukin

4

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21 September 2017

Kathy Selby

5

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21 September 2017

Terrance P Snutch

6

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21 September 2017

Siân D. Spacey

1

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Blazej I. Szczygielski

2

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Sean P. Young

3

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Terrance P. Snutch

6

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publication date

1 August 2004

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Canadian Journal of Neurological Sciences

21 September 2017

August 2004

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published in

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21 September 2017

volume

31

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21 September 2017

issue

3

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21 September 2017

page(s)

383-386

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Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

21 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

Intrafamilial Phenotypic Variability in Friedreich Ataxia Associated With a G130V Mutation in the FRDA Gene

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100003498

7 January 2021

10.1017/S0317167100003498

Identifiers

DOI

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