Visual system involvement in patients with Friedreich's ataxia (Q33377900)

26 July 2017

title

Visual system involvement in patients with Friedreich's ataxia (English)

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26 July 2017

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Maria Lucia Valentino

Maria Lucia Valentino

4

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Caterina Tonon

Caterina Tonon

9

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Giovanni Rizzo

Giovanni Rizzo

8

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David Manners

David Manners

10

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Raffaele Lodi

Raffaele Lodi

11

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Cinzia Gellera

Cinzia Gellera

6

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Rocco Liguori

Rocco Liguori

3

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Valerio Carelli

Valerio Carelli

13

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Giacomo Savini

Giacomo Savini

5

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Caterina Mariotti

7

Caterina Mariotti

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26 July 2017

2

Piero Barboni

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26 July 2017

Filippo Fortuna

1

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26 July 2017

Alfredo A Sadun

12

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26 July 2017

language of work or name

English

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publication date

18 October 2008

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26 July 2017

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26 July 2017

volume

132

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26 July 2017

issue

Pt 1

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26 July 2017

page(s)

116-123

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

26 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Mitochondrial dysfunction as a cause of optic neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Mitochondrial optic neuropathies: how two genomes may kill the same cell type?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Characterization of vigabatrin‐associated optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Frataxin gene point mutations in Italian Friedreich ataxia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Apparent diffusion coefficient measurements of the middle cerebellar peduncle differentiate the Parkinson variant of MSA from Parkinson's disease and progressive supranuclear palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Friedreich ataxia: the oxidative stress paradox

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Tractography to depict three layers of visual field trajectories to the calcarine gyri

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN269

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWN269

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26 July 2017

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