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PAPER Wiesenfarth M, Forouhideh-Wiesenfarth Y, Elmas Z, Parlak Ö, Weiland U, Herrmann C, Schuster J, Freischmidt A, Müller K, Siebert R, Günther K, Fröhlich E, Knehr A, Simak T, Bachhuber F, Regensburger M, Petri S, Klopstock T, Reilich P, Schöberl F, Schumann P, Körtvélyessy P, Meyer T, Ruf WP, Witzel S, Tumani H, Brenner D, Dorst J, Ludolph AC

Correction: Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.

J Neurol. 2025 Mar 8;272(4):259. PubMed. Corrected paper.

PSEN1 Q223K

MUTATIONS PSEN1 73659470 GRCh37/hg19 rs1898776259 C A 73192762 GRCh38/hg38 rs1898776259 C A Exon 7 Coding Increased Aβ42 levels and the Aβ42/Aβ40 ratio in cells. Unknown. Q223K Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed information on

PSEN1 W165L

MUTATIONS PSEN1 73653574 GRCh37/hg19 rs1898534725 G T 73186866 GRCh38/hg38 G T Exon 6 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD score = 28.3). Unknown. W165L Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed info

Yizhou A. Liu


Washington University in St Louis School of Medicine
United States

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