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A reason for screening amyotrophic lateral sclerosis (ALS) patients for mutations in the superoxide dismutase-1 (SOD1) gene is the opportunity to find novel mutations with properties that can give information on pathogenesis. A novel c.352C>G (L117V) SOD1 mutation was found in two Syrian ALS families living in Europe. The disease showed unusually low(More)
Mutations in superoxide dismutase-1 (SOD1) are a common known cause of amyotrophic lateral sclerosis (ALS). The neurotoxicity of mutant SOD1s is most likely caused by misfolded molecular species, but disease pathogenesis is still not understood. Proposed mechanisms include impaired mitochondrial function, induction of endoplasmic reticulum stress, reduction(More)
On the role of SOD1 and C9ORF72 in the pathogenesis of ALS Işıl Keskin Akademisk avhandling som med vederbörligt tillstånd av Rektorsämbetet vid Umeå universitet för avläggande av medicine doktorsexamen vid medicinska fakulteten framläggs till offentligt försvar i Föreläsningssal A, Unod T 9, Norrlands universitetssjukhus, Umeå, fredagen den 23(More)
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