(Q28297330)

12

0 references

Francesca Cavalcanti

F Cavalcanti

15

0 references

Alexandra Durr

2

A Dürr

0 references

Paul Trouillas

5

P Trouillas

0 references

Alfried Kohlschütter

1 reference

ORCID Public Data File 2021

A Nivelon-Chevallier

8

A Nivelon-Chevallier

0 references

Michele T M Hu

17

G De Michele

0 references

Milan Labuda

20

M Labuda

0 references

author name string

M Cossée

1

0 references

M Schmitt

3

0 references

N Dahl

4

0 references

P Allinson

6

0 references

M Kostrzewa

7

0 references

K H Gustavson

9

0 references

A Kohlschütter

10

0 references

U Müller

11

0 references

M Koenig

14

0 references

A Tammaro

16

0 references

A Filla

18

0 references

S Cocozza

19

0 references

L Montermini

21

0 references

J Poirier

22

0 references

M Pandolfo

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

23

0 references

language of work or name

English

0 references

publication date

February 1999

0 references

published in

Annals of Neurology

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volume

45

0 references

page(s)

200-6

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issue

2

0 references

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Late onset recessive ataxia with Friedreich's disease phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U

Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199902%2945%3A2%3C200%3A%3AAID-ANA10%3E3.0.CO%3B2-U