Condition: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
rs116205032 in
SETX gene and
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
PMID 16644229 2006 Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
PMID 23786967 2013 Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1.
PMID 16717225 2006 Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.
PMID 14770181 2004 Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
PMID 23941260 2013 SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
PMID 17096168 2007 In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.
PMID 24105744 2013 A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage.
PMID 23566282 2013 A new SETX mutation producing AOA2 in two siblings.
PMID 15106121 2004 DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
PMID 22088787 2012 SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.
PMID 21438761 2011 Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.
PMID 21576111 2011 Senataxin modulates neurite growth through fibroblast growth factor 8 signalling.
PMID 24244371 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.
PMID 19141356 2009 Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.
PMID 24814856 2014 Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.
PMID 19696032 2009 Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
PMID 17159128 2006 Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.