Friedreich Ataxia

Known as: Spinal Sclerosis, Hereditary, Ataxia, Friedreich's, Familial Ataxia, Friedreich's 
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior… (More)
National Institutes of Health

Papers overview

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Review
2017
Review
2017
Increasing numbers of individuals, particularly the elderly, suffer from neurodegenerative disorders. These diseases are normally… (More)
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Highly Cited
2006
Highly Cited
2006
Expansion of GAA x TTC triplets within an intron in FXN (the gene encoding frataxin) leads to transcription silencing, forming… (More)
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Review
2003
Review
2003
There has been rapid progress in the understanding of several aspects of Friedreich's ataxia (FA) since the gene mutation was… (More)
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Highly Cited
2001
Highly Cited
2001
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory… (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
1997
Highly Cited
1997
Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the frataxin gene. In order… (More)
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Highly Cited
1997
Highly Cited
1997
Despite the involvement of cerebellar ataxia in a large variety of conditions and its frequent association with other… (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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Highly Cited
1996
Highly Cited
1996
BACKGROUND Friedreich's ataxia, the most common inherited ataxia, is associated with a mutation that consists of an unstable… (More)
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Highly Cited
1981
Highly Cited
1981
The clinical features of 115 patients from 90 families with Friedreich's ataxia are described. Onset of symptoms was before the… (More)
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