Associated Papers
Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review.
Albaradie R et al.
Experimental and Therapeutic Medicine, 2022
Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.
Saghazadeh A et al.
Acta Medica Iranica, 2017
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Yokoseki A et al.
Brain : a Journal of Neurology, 2011
A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents.
Crimella C et al.
Human Mutation, 2011
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
Tada M et al.
Advances in Experimental Medicine and Biology, 2010
Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Sugawara M et al.
European Neurology, 2008
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
Seidle HF et al.
The Journal of Biological Chemistry, 2005
Aprataxin, a novel protein that protects against genotoxic stress.
Gueven N et al.
Human Molecular Genetics, 2004
Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein.
Sano Y et al.
Annals of Neurology, 2004
[Mutation with yellow eyes in Musca domestica].
LA FACE L
Rendiconti - Istituto Superiore Di Sanita, 1956
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