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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.

PAPER Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Li C, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Le Ber I, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris HR, de Silva R, Crary JF, Goate AM, Friedman JS, Compta Y, Leung YY, Coppola G, Naj AC, Wang LS, PSP Genetics Study Group, Dalgard C, Dickson DW, Höglinger GU, Tzeng JY, Geschwind DH, Schellenberg GD, Lee WP

Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.

Mov Disord. 2025 Mar 8; Epub 2025 Mar 8 PubMed.

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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