FXN gene

Known as: X25, FRDA GENE, FARR 
 
National Institutes of Health

Papers overview

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2012
2012
OBJECTIVE Friedreich ataxia (FA) is the most common ataxia and results from an expanded GAA repeat in the first intron of FXN… (More)
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Highly Cited
2007
Highly Cited
2007
Friedreich ataxia (FRDA), the most common hereditary ataxia, is caused by mutations in the frataxin (FXN) gene. The vast majority… (More)
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Review
2004
Review
2004
Major insights have been attained into the molecular pathology of the trinucleotide repeat neurodegenerative diseases over the… (More)
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Highly Cited
2002
Highly Cited
2002
BACKGROUND Friedreich's ataxia encodes a protein of unknown function, frataxin. The loss of frataxin is caused by a large GAA… (More)
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Highly Cited
2001
Highly Cited
2001
Friedreich's ataxia (FRDA) results from a generalized deficiency of mitochondrial iron-sulfur protein activity ascribed to… (More)
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Highly Cited
1999
Highly Cited
1999
A tandem repeat in DNA is two or more contiguous, approximate copies of a pattern of nucleotides. Tandem repeats have been shown… (More)
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Highly Cited
1999
Highly Cited
1999
BACKGROUND Friedreich's ataxia is caused by a deficiency of frataxin, a protein involved in regulation of mitochondrial iron… (More)
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Review
1998
Review
1998
A potential pivotal role for mitochondrial dysfunction in neurodegenerative diseases is gaining increasing acceptance… (More)
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Highly Cited
1997
Highly Cited
1997
Friedreich ataxia (FRDA) is a common autosomal recessive degenerative disease (1/50,000 live births) characterized by a… (More)
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Highly Cited
1996
Highly Cited
1996
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous… (More)
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