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
Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2.
Appel CD et al.
Molecular Cell, 2023
Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.
Chen S et al.
Frontiers in Molecular Neuroscience, 2022
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
Shakya S et al.
Clinical Genetics, 2019
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.
Paucar M et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2019
Sen1 has unique structural features grafted on the architecture of the Upf1-like helicase family.
Leonaitė B et al.
The Embo Journal, 2017
Saccharomyces cerevisiae Sen1 as a model for the study of mutations in human Senataxin that elicit cerebellar ataxia.
Chen X et al.
Genetics, 2014
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
Arning L et al.
Neurogenetics, 2013
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
Genetic Testing in Neurology: What Every Neurologist Must Know.
Salunkhe M et al.
Annals of Indian Academy of Neurology, 0
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