FRIEDREICH ATAXIA 1

Known as: FA, FRDA, FRDA1 
 
National Institutes of Health

Papers overview

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Review
2013
Review
2013
Neurological examination indicates that Friedreich's ataxia corresponds to a mixed sensory and cerebellar ataxia, which affects… (More)
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2011
2011
Lack of frataxin in Friedreich’s ataxia (FRDA) causes a complex neurological and pathological phenotype. Progressive atrophy of… (More)
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2011
2011
Our aim was to perform a comprehensive analysis of the global and segmental features of gait in patients with genetically… (More)
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2011
2011
Friedreich's ataxia (FRDA) is caused by biallelic expansion of GAA repeats leading to the transcriptional silencing of the… (More)
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2010
2010
Friedreich ataxia is a degenerative disease caused by deficiency of the protein frataxin (FXN). An intronic expansion of GAA… (More)
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Review
2009
Review
2009
Understanding the role of frataxin in mitochondria is key to an understanding of the pathogenesis of Friedreich ataxia. Frataxins… (More)
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Highly Cited
2007
Highly Cited
2007
Frataxin deficiency in Friedreich’s ataxia (FRDA) causes cardiac, endocrine, and nervous system manifestations. Frataxin is a… (More)
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Highly Cited
1999
Highly Cited
1999
A novel DNA structure, sticky DNA, is described for lengths of (GAA.TTC)n found in intron 1 of the frataxin gene of Friedreich's… (More)
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1999
1999
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encodes a 210-amino acid protein… (More)
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Highly Cited
1997
Highly Cited
1997
Friedreich's ataxia is due to loss of function mutations in the gene encoding frataxin (FRDA). Frataxin is a protein of unknown… (More)
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