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Page 1
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Among authors: christin c. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713
The impact of delayed storage on the measured proteome and metabolome of human cerebrospinal fluid.
Rosenling T, Stoop MP, Smolinska A, Muilwijk B, Coulier L, Shi S, Dane A, Christin C, Suits F, Horvatovich PL, Wijmenga SS, Buydens LM, Vreeken R, Hankemeier T, van Gool AJ, Luider TM, Bischoff R. Rosenling T, et al. Among authors: christin c. Clin Chem. 2011 Dec;57(12):1703-11. doi: 10.1373/clinchem.2011.167601. Epub 2011 Oct 13. Clin Chem. 2011. PMID: 21998343
Carotid artery direct access for mechanical thrombectomy: the Carotid Artery Puncture Evaluation (CARE) study.
Dumas V, Kaesmacher J, Ognard J, Forestier G, Dargazanli C, Janot K, Behme D, Shotar E, Chabert E, Velasco S, Bricout N, Ben Hassen W, Veunac L, Geismar M, Eugene F, Detraz L, Darcourt J, L'Allinec V, Eker OF, Consoli A, Maus V, Gariel F, Marnat G, Papanagiotou P, Papagiannaki C, Escalard S, Meyer L, Lobsien D, Abdullayev N, Chalumeau V, Neau JP, Guillevin R, Boulouis G, Rouchaud A, Styczen H, Fauché C; JENI, SFNR and the YOUNICORN Research collaborations. Dumas V, et al. J Neurointerv Surg. 2022 Dec;14(12):1180-1185. doi: 10.1136/neurintsurg-2021-017935. Epub 2021 Dec 16. J Neurointerv Surg. 2022. PMID: 34916267