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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: velic a. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 No abstract available.
Chromium-Thiolate Complex Undergoing C-S Bond Cleavage.
Shen K, Gennari M, Philouze C, Velić A, Demeshko S, Meyer F, Duboc C. Shen K, et al. Among authors: velic a. Inorg Chem. 2024 May 6. doi: 10.1021/acs.inorgchem.4c00402. Online ahead of print. Inorg Chem. 2024. PMID: 38709854
Glutamine prevents acute kidney injury by modulating oxidative stress and apoptosis in tubular epithelial cells.
Thomas K, Zondler L, Ludwig N, Kardell M, Lüneburg C, Henke K, Mersmann S, Margraf A, Spieker T, Tekath T, Velic A, Holtmeier R, Hermann J, Jankowski V, Meersch M, Vestweber D, Westphal M, Roth J, Schäfers MA, Kellum JA, Lowell CA, Rossaint J, Zarbock A. Thomas K, et al. Among authors: velic a. JCI Insight. 2022 Nov 8;7(21):e163161. doi: 10.1172/jci.insight.163161. JCI Insight. 2022. PMID: 36107633 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: velic a. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
COVID-19, trade collapse and GVC linkages: European experience.
Kejžar KZ, Velić A, Damijan JP. Kejžar KZ, et al. Among authors: velic a. World Econ. 2022 Jul 11:10.1111/twec.13314. doi: 10.1111/twec.13314. Online ahead of print. World Econ. 2022. PMID: 35942037 Free PMC article.
55 results