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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… Expand
National Institutes of Health

Papers overview

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Review
2019
Review
2019
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an under-recognized cause of heart failure (HF) in older adults, resulting from… Expand
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Review
2019
Review
2019
Ataxia‐telangiectasia (A‐T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in… Expand
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Review
2019
Review
2019
The DNA damage response (DDR) pathway coordinates the identification, signaling, and repair of DNA damage caused by endogenous or… Expand
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Review
2018
Review
2018
Metallothioneins (MTs) are small cysteine-rich proteins that play important roles in metal homeostasis and protection against… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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Highly Cited
1996
Highly Cited
1996
Hereditary haemochromatosis (HH), which affects some 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals of… Expand
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Highly Cited
1981
Highly Cited
1981
  • A. Harding
  • Brain : a journal of neurology
  • 1981
  • Corpus ID: 40707764
The clinical features of 115 patients from 90 families with Friedreich's ataxia are described. Onset of symptoms was before the… Expand
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