Condition: TREMOR, HEREDITARY ESSENTIAL, 4
rs121909668 in
FUS gene and
TREMOR, HEREDITARY ESSENTIAL, 4
PMID 23577159 2013 Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.
PMID 24204307 2013 ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation.
PMID 20606625 2010 ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import.
PMID 25324524 2014 Activity-dependent FUS dysregulation disrupts synaptic homeostasis.
PMID 22055719 2012 FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.
PMID 20577002 2010 SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
PMID 24908169 2014 Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.
PMID 19251627 2009 Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
PMID 20668259 2010 Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia.
PMID 22863194 2012 Exome sequencing identifies FUS mutations as a cause of essential tremor.