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ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
Camarena V, Williams MM, Morales AA, Zafeer MF, Kilic OV, Kamiar A, Abad C, Rasmussen MA, Briski LM, Peart L, Bademci G, Barbouth DS, Smithson S, Wang G, Shehadeh LA, Walz K, Tekin M. Camarena V, et al. Among authors: walz k. JCI Insight. 2024 Feb 1;9(5):e174417. doi: 10.1172/jci.insight.174417. JCI Insight. 2024. PMID: 38300707 Free PMC article.
Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.
Rebelo AP, Abad C, Dohrn MF, Li JJ, Tieu E, Medina J, Yanick C, Huang J, Zotter B, Young JI, Saporta M, Scherer SS, Walz K, Zuchner S. Rebelo AP, et al. Among authors: walz k. bioRxiv [Preprint]. 2023 Dec 7:2023.12.05.570001. doi: 10.1101/2023.12.05.570001. bioRxiv. 2023. Update in: Brain. 2024 Sep 3;147(9):3131-3143. doi: 10.1093/brain/awae079 PMID: 38106042 Free PMC article. Updated. Preprint.
Sustained Performance of Cardiac Arrest Prevention in Pediatric Cardiac Intensive Care Units.
Mueller D, Bailly DK, Banerjee M, Bertrandt RA, Borasino S, Briceno-Medina M, Chan T, Diddle JW, Domnina Y, Clarke-Myers K, Connelly C, Florez A, Gaies M, Garza J, Ghassemzadeh R, Lane J, McCammond AN, Olive MK, Ortmann L, Prodhan P, Raymond TT, Sasaki J, Scahill C, Schroeder LW, Schumacher KR, Werho DK, Zhang W, Alten J; PC4 CAP Collaborators. Mueller D, et al. JAMA Netw Open. 2024 Sep 3;7(9):e2432393. doi: 10.1001/jamanetworkopen.2024.32393. JAMA Netw Open. 2024. PMID: 39250152 Free PMC article.
Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.
Janz A, Walz K, Cirnu A, Surjanto J, Urlaub D, Leskien M, Kohlhaas M, Nickel A, Brand T, Nose N, Wörsdörfer P, Wagner N, Higuchi T, Maack C, Dudek J, Lorenz K, Klopocki E, Ergün S, Duff HJ, Gerull B. Janz A, et al. Among authors: walz k. Mol Metab. 2024 Jan;79:101859. doi: 10.1016/j.molmet.2023.101859. Epub 2023 Dec 23. Mol Metab. 2024. PMID: 38142971 Free PMC article.
107 results