Associated Papers
A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia.
Satolli S et al.
Movement Disorders Clinical Practice, 2024
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Tumbale P et al.
The Embo Journal, 2018
Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.
Saghazadeh A et al.
Acta Medica Iranica, 2017
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Schellenberg MJ et al.
Progress in Biophysics and Molecular Biology, 2015
Structure of an aprataxin-DNA complex with insights into AOA1 neurodegenerative disease.
Tumbale P et al.
Nature Structural & Molecular Biology, 2011
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Yokoseki A et al.
Brain : a Journal of Neurology, 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
Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin.
Rass U et al.
The Journal of Biological Chemistry, 2008
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