Associated Papers
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 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
[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
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
Scarlino S et al.
International Journal of Molecular Sciences, 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
Combined deficiency of Senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy.
Kannan A et al.
Nucleic Acids Research, 2018
A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis.
Ma L et al.
Brain and Behavior, 2018
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
Tripolszki K et al.
Brain and Behavior, 2017
Genotype-phenotype correlations of amyotrophic lateral sclerosis.
Li HF et al.
Translational Neurodegeneration, 2016
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
Arning L et al.
Neurogenetics, 2013
Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.
Avemaria F et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2011
The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS).
Strong MJ
Journal of the Neurological Sciences, 2010
A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis.
Zhao ZH et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2009