Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants
Senataxin: A key actor in RNA metabolism, genome integrity and neurodegeneration.
Giannini M et al.
Biochimie, 2024
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 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
Biallelic Mutation of SETX and Additional Likely "In Cis" SETX Sequence Change in Ataxia with Oculomotor Apraxia Type 2.
Perry MD et al.
Journal of Pediatric Genetics, 2021
Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations.
Broeckx BJG et al.
Bmc Bioinformatics, 2017
29191167 (PubMed )
Supplement: 12859_2017_1951_MOESM5_ESM.xls › Sheet1
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
Arning L et al.
Neurogenetics, 2013
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.
Airoldi G et al.
Neurogenetics, 2010
RNA processing defects associated with diseases of the motor neuron.
Kolb SJ et al.
Muscle & Nerve, 2010
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.
Bassuk AG et al.
Neurogenetics, 2007
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