Ataxia with vitamin E deficiency

Known as: Friedreich-like ataxia with selective vitamin E deficiency, Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency, AVED 
 
National Institutes of Health

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AtaxiaVitamin E Deficiency

Papers overview

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2015
2015
Ataxia with Vitamin E Deficiency in Norway
OBJECTIVE Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in… (More)
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Review
2010
Review
2010
Ataxia with vitamin E deficiency: update of molecular diagnosis
Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease, due to mutations in TTPA gene… (More)
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Highly Cited
2009
Highly Cited
2009
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for…
While Friedreich's ataxia (FRDA) and ataxia telangiectasia (AT) are known to be the two most frequent forms of autosomal… (More)
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2009
2009
Ataxia with vitamin E deficiency in southeast Norway, case report.
BACKGROUND Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in north European countries with unknown… (More)
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2008
2008
Ataxia with vitamin E deficiency associated with deafness.
Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive disorder, usually with a phenotype resembling Friedreich… (More)
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2003
2003
Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency.
Human alpha-tocopherol (alpha-T) transfer protein (ATTP) plays a central role in vitamin E homeostasis, preventing degradation of… (More)
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2001
2001
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency.
Ataxia with vitamin E (Vit E) defciency (AVED) is an autosomal recessive disorder caused by mutations of the alpha tocopherol… (More)
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Highly Cited
1998
Highly Cited
1998
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.
Ataxia with vitamin E deficiency (AVED), or familial isolated vitamin E deficiency, is a rare autosomal recessive… (More)
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1995
1995
Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein
Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome… (More)
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1995
1995
Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families.
Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with… (More)
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