Positional Hemiseesaw Nystagmus in Ataxia with Oculomotor Apraxia Type 2 due to a Novel Senataxin Gene Mutation: A New Phenotype
Research in Vestibular Science. 2020;19(1):12-15 
Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene
Journal of Neurology. 2009;256(9):1555-1557
Senataxin gene mutation presenting with ataxia oculomotor apraxia type 2: Five patients with three different mutations
Parkinsonism & Related Disorders. 2020;79:e112
Ataxia with Oculomotor Apraxia Type 1—New Mutation, Characteristic Phenotype
Movement Disorders Clinical Practice. 2019;6(3):265-266
A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2
Acta Neurologica Belgica. 2016;116(3):405-407
Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1
Frontiers in Neurology. 2022;13:
Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review
Frontiers in Molecular Neuroscience. 2022;15:
Early-Onset Ataxia With Oculomotor Apraxia With a Novel APTX Mutation
Pediatric Neurology. 2005;33(1):53-56
NovelAPTXMutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1
Movement Disorders Clinical Practice. 2014;2(1):90-92
SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2
Parkinsonism & Related Disorders. 2012;18(5):700-701