Predictors of progression in patients with Friedreich ataxia (Q36964121)

17 August 2017

Predictors of progression in patients with Friedreich ataxia (English)

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17 August 2017

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Alison La Pean

1

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17 August 2017

Neal Jeffries

2

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17 August 2017

Chelsea Grow

3

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17 August 2017

Bernard Ravina

4

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17 August 2017

Nicholas A Di Prospero

5

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17 August 2017

language of work or name

English

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publication date

1 October 2008

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17 August 2017

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17 August 2017

23

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17 August 2017

14

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17 August 2017

2026-2032

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Antioxidant use in Friedreich ataxia

17 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

Friedreich's Ataxia: disease mechanisms, antioxidant and Coenzyme Q10 therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

Mitochondrial dysfunction in Friedreich's ataxia: from pathogenesis to treatment perspectives

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

Friedreich ataxia: an overview

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

Clinical and genetic abnormalities in patients with Friedreich's ataxia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

The natural history of degenerative ataxia: a retrospective study in 466 patients

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

Determinants of onset age in Friedreich's ataxia.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

Clinical and genetic study of Friedreich ataxia in an Australian population.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

Friedreich's ataxia. Revision of the phenotype according to molecular genetics

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579318

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

4 September 2018

1 reference

12 December 2020

Expanded GAA repeats and clinical variation in Friedreich's ataxia

1 reference

12 December 2020

Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

1 reference

12 December 2020

Identifiers

DOI

10.1002/MDS.22248

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17 August 2017

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17 August 2017

PubMed publication ID

18759347

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