Associated Papers
Early-Onset Ataxia with Oculo-Motor Apraxia and Hypoalbuminemia - A Rare Case Report from South Indian Region.
Manivannan A et al.
Neurology India, 2025
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
Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.
Ababneh NA et al.
Plos One, 2020
Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Tumbale P et al.
The Embo Journal, 2018
Unexpectedly mild phenotype in an ataxic family with a two-base deletion in the APTX gene.
Hirano M et al.
Journal of the Neurological Sciences, 2017
Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.
Saghazadeh A et al.
Acta Medica Iranica, 2017
Neurological disorders associated with DNA strand-break processing enzymes.
Jiang B et al.
Mechanisms of Ageing and Development, 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
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
Bohlega SA et al.
Bmc Medical Genetics, 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
Short half-lives of ataxia-associated aprataxin proteins in neuronal cells.
Hirano M et al.
Neuroscience Letters, 2007
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
Le Ber I et al.
Current Neurology and Neuroscience Reports, 2005
Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
Ito A et al.
Pediatric Neurology, 2005
Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
Seidle HF et al.
The Journal of Biological Chemistry, 2005
Loss of function mechanism in aprataxin-related early-onset ataxia.
Hirano M et al.
Biochemical and Biophysical Research Communications, 2004
Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Hirano M et al.
Neuroscience Letters, 2004
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
Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.
Sekijima Y et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2003
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
Moreira MC et al.
Nature Genetics, 2001
[Mutation with yellow eyes in Musca domestica].
LA FACE L
Rendiconti - Istituto Superiore Di Sanita, 1956