Associated Papers
Role of Senataxin in Amyotrophic Lateral Sclerosis.
Tsui A et al.
Journal of Molecular Neuroscience : Mn, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
[A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene].
Kitao R et al.
Rinsho Shinkeigaku = Clinical Neurology, 2020
Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene.
Andreini I et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
Tripolszki K et al.
Brain and Behavior, 2017
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
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