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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.
Immunodeficiency-related high-grade B-cell lymphoma with 11q aberration: Further evidence for a lymphoma entity from a patient with simultaneous papillary renal cell carcinoma following pediatric kidney transplant.
Guazzo R, Fischer A, Vannucchi M, Fabbri A, Garosi G, Granai M, Tripodi SA, Oehl-Huber K, Bens S, Moawia A, Cencini E, Lazzi S, Siebert R, Leoncini L. Guazzo R, et al. Among authors: siebert r. Pathol Res Pract. 2024 Dec 17;266:155777. doi: 10.1016/j.prp.2024.155777. Online ahead of print. Pathol Res Pract. 2024. PMID: 39708522 Free article.
Navigating Illumina DNA methylation data: biology versus technical artefacts.
Glaser S, Kretzmer H, Kolassa IT, Schlesner M, Fischer A, Fenske I, Siebert R, Ammerpohl O. Glaser S, et al. Among authors: siebert r. NAR Genom Bioinform. 2024 Dec 18;6(4):lqae181. doi: 10.1093/nargab/lqae181. eCollection 2024 Dec. NAR Genom Bioinform. 2024. PMID: 39703427 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 Nov 26;43(11):114853. doi: 10.1016/j.celrep.2024.114853. Epub 2024 Oct 19. Cell Rep. 2024. PMID: 39427318 Free article.
768 results