(Q35172410)

6 August 2017

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title

Friedreich's ataxia: treatment within reach (English)

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6 August 2017

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Alexandra Dürr

1

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6 August 2017

publication date

1 October 2002

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6 August 2017

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6 August 2017

volume

1

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6 August 2017

issue

6

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6 August 2017

page(s)

370-374

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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

6 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

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%2FS1474-4422%2802%2900162-X

7 January 2021

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

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%2FS1474-4422%2802%2900162-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Determinants of onset age in Friedreich's ataxia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

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%2FS1474-4422%2802%2900162-X

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%2FS1474-4422%2802%2900162-X

7 January 2021

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

1 reference

7 January 2021

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

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%2FS1474-4422%2802%2900162-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

GGA*TCC-interrupted triplets in long GAA*TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Identification of three novel frameshift mutations in patients with Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: a retrospective study on 119 patients.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

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%2FS1474-4422%2802%2900162-X

7 January 2021

Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Locus heterogeneity in Friedreich ataxia

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Friedreich's ataxia with retained tendon reflexes: molecular genetics, clinical neurophysiology, and magnetic resonance imaging

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Autosomal recessive posterior column ataxia and retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Very late onset Friedreich's presenting as spastic tetraparesis without ataxia or neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Friedreich's ataxia presenting as adult-onset spastic paraparesis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

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%2FS1474-4422%2802%2900162-X

7 January 2021

Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Different phenotypes of Friedreich's ataxia within one 'pseudo-dominant' genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

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%2FS1474-4422%2802%2900162-X

7 January 2021

Frataxin gene of Friedreich's ataxia is targeted to mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

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%2FS1474-4422%2802%2900162-X

7 January 2021

The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Increased iron in the dentate nucleus of patients with Friedrich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

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%2FS1474-4422%2802%2900162-X

7 January 2021

Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Idebenone in patients with Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900162-X

7 January 2021

10.1016/S1474-4422(02)00162-X

Identifiers

DOI

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6 August 2017

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