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Page 1
Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.
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. Wiesenfarth M, et al. Among authors: siebert r. J Neurol. 2024 Oct;271(10):6667-6679. doi: 10.1007/s00415-024-12564-1. Epub 2024 Aug 14. J Neurol. 2024. PMID: 39141064 Free PMC article.
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP, Boros M, Freischmidt A, Brenner D, Grozdanov V, de Meirelles J, Meyer T, Grehl T, Petri S, Grosskreutz J, Weyen U, Guenther R, Regensburger M, Hagenacker T, Koch JC, Emmer A, Roediger A, Steinbach R, Wolf J, Weishaupt JH, Lingor P, Deschauer M, Cordts I, Klopstock T, Reilich P, Schoeberl F, Schrank B, Zeller D, Hermann A, Knehr A, Günther K, Dorst J, Schuster J, Siebert R, Ludolph AC, Müller K. Ruf WP, et al. Among authors: siebert r. Brain Commun. 2023 May 9;5(3):fcad152. doi: 10.1093/braincomms/fcad152. eCollection 2023. Brain Commun. 2023. PMID: 37223130 Free PMC article.
Morbus Fabry and Parkinson's Disease-More Evidence for a Possible Genetic Link.
Müller S, Kassubek J, Hold ST, Kasper DC, Mayer B, Müller K, Freischmidt A, Siebert R, Braak H, Ludolph AC, Del Tredici K. Müller S, et al. Among authors: siebert r. Mov Disord. 2024 Feb;39(2):449-451. doi: 10.1002/mds.29686. Epub 2024 Jan 16. Mov Disord. 2024. PMID: 38226450 No abstract available.
Effects of tofersen treatment in patients with SOD1-ALS in a "real-world" setting - a 12-month multicenter cohort study from the German early access program.
Wiesenfarth M, Dorst J, Brenner D, Elmas Z, Parlak Ö, Uzelac Z, Kandler K, Mayer K, Weiland U, Herrmann C, Schuster J, Freischmidt A, Müller K, Siebert R, Bachhuber F, Simak T, Günther K, Fröhlich E, Knehr A, Regensburger M, German A, Petri S, Grosskreutz J, Klopstock T, Reilich P, Schöberl F, Hagenacker T, Weyen U, Günther R, Vidovic M, Jentsch M, Haarmeier T, Weydt P, Valkadinov I, Hesebeck-Brinckmann J, Conrad J, Weishaupt JH, Schumann P, Körtvélyessy P, Meyer T, Ruf WP, Witzel S, Senel M, Tumani H, Ludolph AC. Wiesenfarth M, et al. Among authors: siebert r. EClinicalMedicine. 2024 Feb 15;69:102495. doi: 10.1016/j.eclinm.2024.102495. eCollection 2024 Mar. EClinicalMedicine. 2024. PMID: 38384337 Free PMC article.
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.
Eigemann J, Janda A, Schuetz C, Lee-Kirsch MA, Schulz A, Hoenig M, Furlan I, Jacobsen EM, Zinngrebe J, Peters S, Drewes C, Siebert R, Rump EM, Führer M, Lorenz M, Pannicke U, Kölsch U, Debatin KM, von Bernuth H, Schwarz K, Felgentreff K. Eigemann J, et al. Among authors: siebert r. J Clin Immunol. 2024 Sep 12;45(1):1. doi: 10.1007/s10875-024-01799-2. J Clin Immunol. 2024. PMID: 39264518 Free PMC article.
The genomic and transcriptional landscape of primary central nervous system lymphoma.
Radke J, Ishaque N, Koll R, Gu Z, Schumann E, Sieverling L, Uhrig S, Hübschmann D, Toprak UH, López C, Hostench XP, Borgoni S, Juraeva D, Pritsch F, Paramasivam N, Balasubramanian GP, Schlesner M, Sahay S, Weniger M, Pehl D, Radbruch H, Osterloh A, Korfel A, Misch M, Onken J, Faust K, Vajkoczy P, Moskopp D, Wang Y, Jödicke A, Trümper L, Anagnostopoulos I, Lenze D, Küppers R, Hummel M, Schmitt CA, Wiestler OD, Wolf S, Unterberg A, Eils R, Herold-Mende C, Brors B; ICGC MMML-Seq Consortium; Siebert R, Wiemann S, Heppner FL. Radke J, et al. Among authors: siebert r. Nat Commun. 2022 May 10;13(1):2558. doi: 10.1038/s41467-022-30050-y. Nat Commun. 2022. PMID: 35538064 Free PMC article.
A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes.
Merz S, Senée V, Philippi A, Oswald F, Shaigan M, Führer M, Drewes C, Allgöwer C, Öllinger R, Heni M, Boland A, Deleuze JF, Birkhofer F, Gusmao EG, Wagner M, Hohwieler M, Breunig M, Rad R, Siebert R, Messerer DAC, Costa IG, Alvarez F, Julier C, Kleger A, Heller S. Merz S, et al. Among authors: siebert r. Cell Rep. 2024 Oct 19;43(11):114853. doi: 10.1016/j.celrep.2024.114853. Online ahead of print. Cell Rep. 2024. PMID: 39427318 Free article.
FISH and FICTION in Lymphoma Research.
Giefing M, Sawicz G, Siebert R. Giefing M, et al. Among authors: siebert r. Methods Mol Biol. 2025;2865:221-240. doi: 10.1007/978-1-0716-4188-0_9. Methods Mol Biol. 2025. PMID: 39424726
Desmoplastic Small Round Cell Tumors: Clinical Presentation, Molecular Characterization, and Therapeutic Approach of Seven Patients.
Gaidzik VI, Mayer-Steinacker R, Wittau M, Schultheiß M, V Baer A, Oehl-Huber K, Dahlum S, Fischer A, Gerstenmaier U, Seufferlein T, Buck A, Beer A, Thaiss W, Möller P, Döhner H, Siebert R, Marienfeld R, Barth TFE. Gaidzik VI, et al. Among authors: siebert r. Sarcoma. 2024 Oct 8;2024:5036102. doi: 10.1155/2024/5036102. eCollection 2024. Sarcoma. 2024. PMID: 39411551 Free PMC article.
766 results