Article
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.
Neurobiology of aging - 1 May 2017
Tripolszki Kornélia, Csányi Bernadett, Nagy Dóra, Ratti Antonia, Tiloca Cinzia, Silani Vincenzo, Kereszty Éva, Török Nóra, Vécsei László, Engelhardt József I, Klivényi Péter, Nagy Nikoletta, Széll Márta
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the death of motor neurons. To date, more than 20 genes have been implicated in ALS, and of these, the 2 most frequently mutated are the superoxide dismutase 1 (SOD1) gene and the chromosome 9 open reading frame 72 (C9ORF72) gene. In this study, we aimed to investigate the contribution of these 2 Mendelian genes to the development...
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