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771 results

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Page 1
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.
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.
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.
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.
MicroRNA Expression in High-Grade B-Cell Lymphoma With 11q Aberration.
Di Stefano G, Fischer A, Chteinberg E, Bens S, Wagener R, Abramov D, Adam P, Bernhart SH, Borkhardt A, Burkhardt B, Del-Val C, Frühwald MC, Guazzo R, Hoell JI, Hummel M, Horn H, Klapper W, Krugmann J, Kurz KS, Lazzi S, Louissaint AJ, Mottok A, Oschlies I, Santi R, Schafernak K, Staiger AM, Zhang Y, Rosenwald A, Trümper L, Leoncini L, Ott G, Siebert R. Di Stefano G, et al. Among authors: siebert r. Genes Chromosomes Cancer. 2025 Jan;64(1):e70021. doi: 10.1002/gcc.70021. Genes Chromosomes Cancer. 2025. PMID: 39846133 Free PMC article.
Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome- paving the path towards precision medicine: a case report.
Seeling C, Dahlum S, Marienfeld R, Jan V, Rack B, Gerstenmaier U, Beer AJ, Mayer-Steinacker R, Thaiss W, Barth TFE, Seufferlein T, Gaisa NT, Stilgenbauer S, Janni W, Siebert R, Döhner H, Gaidzik VI. Seeling C, et al. Among authors: siebert r. J Cancer Res Clin Oncol. 2025 Jan 16;151(1):37. doi: 10.1007/s00432-024-06077-7. J Cancer Res Clin Oncol. 2025. PMID: 39820556 Free PMC article.
The FBXO45-GEF-H1 axis controls germinal center formation and B-cell lymphomagenesis.
Sahasrabuddhe AA, Chen X, Ma K, Wu R, Liang HC, Kapoor R, Chhipa RR, Onder O, McFetridge C, Van Arnam JS, Zhang X, Morrissette JJD, Pillai V, Li MM, Szankasi P, Basrur V, Conlon KP, Raabe TD, Bailey NG, Hogaboam CM, Rottapel R, Kim J, López C, Schlesner M, Siebert R, Dreval K, Morin RD, Moro L, Pagano M, Staudt LM, Lim MS, Elenitoba-Johnson KSJ. Sahasrabuddhe AA, et al. Among authors: siebert r. Cancer Discov. 2025 Jan 17. doi: 10.1158/2159-8290.CD-24-0442. Online ahead of print. Cancer Discov. 2025. PMID: 39820335
771 results