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Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2023

Yilmaz Rüstem, Grehl Torsten, Eckrich Lukas, Marschalkowski Ines, Weishaupt Kanchi, Valkadinov Ivan, Simic Melita, Brenner David, Andersen Peter M, Wolf Joachim, Weishaupt Jochen H

Abstract excerpt

Background: ALS patients with a negative family history (sporadic ALS, SALS) represent more than 90% of all ALS cases. In light of the gene-specific therapies that are currently in development for ALS, knowledge about the genetic landscape of SALS in Germany is urgently needed. Objectives: We aimed to determine the frequency of C9orf72 hexanucleotide repeat expansion (HRE) and SOD1 mutations among patients in...

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PMID: 36650645
DOI: 10.1080/21678421.2023.2165946

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