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190 results

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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: kozicz t. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713
Depressive behaviour in children diagnosed with a mitochondrial disorder.
Morava E, Gardeitchik T, Kozicz T, de Boer L, Koene S, de Vries MC, McFarland R, Roobol T, Rodenburg RJ, Verhaak CM. Morava E, et al. Among authors: kozicz t. Mitochondrion. 2010 Aug;10(5):528-33. doi: 10.1016/j.mito.2010.05.011. Epub 2010 May 31. Mitochondrion. 2010. PMID: 20573558
Mitochondria and the economy of stress (mal)adaptation.
Morava E, Kozicz T. Morava E, et al. Among authors: kozicz t. Neurosci Biobehav Rev. 2013 May;37(4):668-80. doi: 10.1016/j.neubiorev.2013.02.005. Epub 2013 Feb 13. Neurosci Biobehav Rev. 2013. PMID: 23415702 Review.
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.
Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA. Wortmann SB, et al. Among authors: kozicz t. Neuropediatrics. 2015 Apr;46(2):98-103. doi: 10.1055/s-0034-1399755. Epub 2015 Feb 2. Neuropediatrics. 2015. PMID: 25642805 Free article.
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Wong SY, Beamer LJ, Gadomski T, Honzik T, Mohamed M, Wortmann SB, Brocke Holmefjord KS, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Ackermann A, Stanley CA, Rymen D, Zeharia A, Al-Sayed M, Marquardt T, Jaeken J, Lefeber D, Conrad DF, Kozicz T, Morava E. Wong SY, et al. Among authors: kozicz t. J Pediatr. 2016 Aug;175:130-136.e8. doi: 10.1016/j.jpeds.2016.04.021. Epub 2016 May 17. J Pediatr. 2016. PMID: 27206562
Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Wong SY, et al. Among authors: kozicz t. Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617415 Free PMC article. Clinical Trial.
190 results