Associated Papers
Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.
Ngo KJ et al.
Molecular Medicine (cambridge, Mass.), 2025
40413398 (PubMed )
Supplement: 10020_2025_1257_MOESM4_ESM.xlsx › TableS1_-Study_Cohort_Detailed
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2.
Fogel BL et al.
Cerebellum (london, England), 2009
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Anheim M et al.
Brain : a Journal of Neurology, 2009
"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).
Schöls L et al.
Journal of Neurology, 2008
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