Associated Papers
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
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
Role of Senataxin in Amyotrophic Lateral Sclerosis.
Tsui A et al.
Journal of Molecular Neuroscience : Mn, 2023
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 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
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
Hadjinicolaou A et al.
Acta Neuropathologica Communications, 2021
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease.
Bennett CL et al.
Molecular Genetics & Genomic Medicine, 2021
Unusual electrophysiological findings in a Chinese ALS 4 family with SETX-L389S mutation: a three-year follow-up.
Lei L et al.
Journal of Neurology, 2021
[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
The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.
Picher-Martel V et al.
Journal of Child Neurology, 2020
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska E et al.
Neurogenetics, 2019
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
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
Bennett CL et al.
Acta Neuropathologica, 2018
Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration.
Bennett CL et al.
Advances in Neurobiology, 2018
[A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report].
Taniguchi T et al.
Rinsho Shinkeigaku = Clinical Neurology, 2017
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
Tripolszki K et al.
Brain and Behavior, 2017
Human Senataxin Modulates Structural Plasticity of the Neuromuscular Junction in Drosophila through a Neuronally Conserved TGFβ Signalling Pathway.
Mushtaq Z et al.
Neuro-degenerative Diseases, 2016
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew AP et al.
Molecular Genetics & Genomic Medicine, 2015
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
Ghani M et al.
Neurobiology of Aging, 2015
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
SETX sumoylation: A link between DNA damage and RNA surveillance disrupted in AOA2.
Richard P et al.
Rare Diseases (austin, Tex.), 2014
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
Arning L et al.
Neurogenetics, 2013
Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.
Bennett CL et al.
Plos One, 2013
SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.
Rudnik-Schöneborn S et al.
Neuromuscular Disorders : Nmd, 2012
Senataxin modulates neurite growth through fibroblast growth factor 8 signalling.
Vantaggiato C et al.
Brain : a Journal of Neurology, 2011
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
RNA processing defects associated with diseases of the motor neuron.
Kolb SJ et al.
Muscle & Nerve, 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
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Dierick I et al.
Brain : a Journal of Neurology, 2008
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
Chen YZ et al.
Neurobiology of Disease, 2006
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
Le Ber I et al.
Current Neurology and Neuroscience Reports, 2005
Molecular and cellular pathways of neurodegeneration in motor neurone disease.
Shaw PJ
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
Duquette A et al.
Annals of Neurology, 2005
Complex genetics of amyotrophic lateral sclerosis.
Kunst CB
American Journal of Human Genetics, 2004
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Chen YZ et al.
American Journal of Human Genetics, 2004
[A case of motor and sensory polyneuropathy with retinitis pigmentosa and diffuse idiopathic skeletal hyperostosis].
Osoegawa M et al.
Rinsho Shinkeigaku = Clinical Neurology, 1999