(Q41652322)

6 October 2017

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title

Deciphering the cause of Friedreich ataxia (English)

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6 October 2017

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Koenig M

1

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6 October 2017

Mandel JL

series ordinal

2

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6 October 2017

publication date

1 October 1997

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Current Opinion in Neurobiology

6 October 2017

published in

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6 October 2017

volume

7

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6 October 2017

issue

5

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6 October 2017

page(s)

689-694

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Friedreich's ataxia: a descriptive epidemiological study in an Italian population

6 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Mitochondrial dysfunction and spinocerebellar degenerations

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

"Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Friedreich's ataxia: a defect in signal transduction?

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Trinucleotide repeats in neurogenetic disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Differential stability of the (GAA) n tract in the Friedreich ataxia (STM7) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Origin of the expansion mutation in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

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https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Superoxide radical and superoxide dismutases

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

A regulated RNA binding protein also possesses aconitase activity

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980090-6

7 January 2021

10.1016/S0959-4388(97)80090-6

Identifiers

DOI

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6 October 2017

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