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TWINGEN - protocol for an observational clinical biobank recall and biomarker study to identify individuals with high risk of Alzheimer's disease.
Vuoksimaa E, Saari TT, Aaltonen A, Aaltonen S, Herukka SK, Iso-Markku P, Kokkola T, Kyttälä A, Kärkkäinen S, Liedes H, Ollikainen M, Palviainen T, Ruotsalainen I, Toivola A, Urjansson M, Vasankari T, Vähä-Ypyä H, Forsberg MM, Hiltunen M, Jalanko A, Kälviäinen R, Kuopio T, Lähteenmäki J, Nyberg P, Männikkö M, Serpi R, Siltanen S; FinnGen; Palotie A, Kaprio J, Runz H, Julkunen V. Vuoksimaa E, et al. Among authors: runz h. medRxiv [Preprint]. 2023 Nov 7:2023.11.03.23298018. doi: 10.1101/2023.11.03.23298018. medRxiv. 2023. Update in: BMJ Open. 2024 Jun 12;14(6):e081947. doi: 10.1136/bmjopen-2023-081947 PMID: 37965200 Free PMC article. Updated. Preprint.
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
Cortina-Borja M, Te Vruchte D, Mengel E, Amraoui Y, Imrie J, Jones SA, I Dali C, Fineran P, Kirkegaard T, Runz H, Lachmann R, Bremova-Ertl T, Strupp M, Platt FM. Cortina-Borja M, et al. Among authors: runz h. Orphanet J Rare Dis. 2018 Aug 16;13(1):143. doi: 10.1186/s13023-018-0880-9. Orphanet J Rare Dis. 2018. PMID: 30115089 Free PMC article.
Transmembrane protein 55B is a novel regulator of cellular cholesterol metabolism.
Medina MW, Bauzon F, Naidoo D, Theusch E, Stevens K, Schilde J, Schubert C, Mangravite LM, Rudel LL, Temel RE, Runz H, Krauss RM. Medina MW, et al. Among authors: runz h. Arterioscler Thromb Vasc Biol. 2014 Sep;34(9):1917-23. doi: 10.1161/ATVBAHA.113.302806. Epub 2014 Jul 17. Arterioscler Thromb Vasc Biol. 2014. PMID: 25035345 Free PMC article.
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM. te Vruchte D, et al. Among authors: runz h. J Clin Invest. 2014 Mar;124(3):1320-8. doi: 10.1172/JCI72835. J Clin Invest. 2014. PMID: 24487591 Free PMC article.
Low ceruloplasmin in a patient with Niemann-Pick type C disease.
Connemann BJ, Gahr M, Schmid M, Runz H, Freudenmann RW. Connemann BJ, et al. Among authors: runz h. J Clin Neurosci. 2012 Apr;19(4):620-1. doi: 10.1016/j.jocn.2011.05.038. Epub 2012 Jan 24. J Clin Neurosci. 2012. PMID: 22269206
Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.
Blake J, Riddell A, Theiss S, Gonzalez AP, Haase B, Jauch A, Janssen JW, Ibberson D, Pavlinic D, Moog U, Benes V, Runz H. Blake J, et al. Among authors: runz h. PLoS One. 2014 Mar 13;9(3):e90894. doi: 10.1371/journal.pone.0090894. eCollection 2014. PLoS One. 2014. PMID: 24625750 Free PMC article.
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
Thormaehlen AS, Schuberth C, Won HH, Blattmann P, Joggerst-Thomalla B, Theiss S, Asselta R, Duga S, Merlini PA, Ardissino D, Lander ES, Gabriel S, Rader DJ, Peloso GM, Pepperkok R, Kathiresan S, Runz H. Thormaehlen AS, et al. Among authors: runz h. PLoS Genet. 2015 Feb 3;11(2):e1004855. doi: 10.1371/journal.pgen.1004855. eCollection 2015 Feb. PLoS Genet. 2015. PMID: 25647241 Free PMC article.
121 results