Associated Papers
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_6_P_LP
Senataxin and R-loops homeostasis: multifaced implications in carcinogenesis.
Gatti V et al.
Cell Death Discovery, 2023
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R et al.
Neurology. Genetics, 2022
ΔNp63-Senataxin circuit controls keratinocyte differentiation by promoting the transcriptional termination of epidermal genes.
Gatti V et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
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
Altered translational repression of an RNA-binding protein, Elav by AOA2-causative Senataxin mutation.
Choudhury SD et al.
Synapse (new York, N.y.), 2017
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Mallaret M et al.
Journal of Neurology, 2016
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.
Airoldi G et al.
Neurogenetics, 2010
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
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.
Dupré N et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2006
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
Duquette A et al.
Annals of Neurology, 2005
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Moreira MC et al.
Nature Genetics, 2004
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