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Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.
Chinopoulos C, Batzios S, van den Heuvel LP, Rodenburg R, Smeets R, Waterham HR, Turkenburg M, Ruiter JP, Wanders RJA, Doczi J, Horvath G, Dobolyi A, Vargiami E, Wevers RA, Zafeiriou D. Chinopoulos C, et al. Among authors: vargiami e. Mol Genet Metab. 2019 Jan;126(1):43-52. doi: 10.1016/j.ymgme.2018.11.009. Epub 2018 Nov 16. Mol Genet Metab. 2019. PMID: 30470562
Two Greek siblings with sepiapterin reductase deficiency.
Verbeek MM, Willemsen MAAP, Wevers RA, Lagerwerf AJ, Abeling NGGM, Blau N, Thöny B, Vargiami E, Zafeiriou DI. Verbeek MM, et al. Among authors: vargiami e. Mol Genet Metab. 2008 Aug;94(4):403-409. doi: 10.1016/j.ymgme.2008.04.003. Epub 2008 May 27. Mol Genet Metab. 2008. PMID: 18502672
Alexander disease.
Zafeiriou DI, Dragoumi P, Vargiami E. Zafeiriou DI, et al. Among authors: vargiami e. J Pediatr. 2013 Mar;162(3):648. doi: 10.1016/j.jpeds.2012.09.047. Epub 2012 Nov 10. J Pediatr. 2013. PMID: 23149175 No abstract available.
Ulnar hypoplasia and neurofibromatosis type I.
Vargiami E, Zafeiriou DI, Bantouraki M. Vargiami E, et al. J Pediatr. 2004 Dec;145(6):859. doi: 10.1016/j.jpeds.2004.06.013. J Pediatr. 2004. PMID: 15580221 No abstract available.
Incontinentia pigmenti: a skin, brain, and eye matter.
Zafeiriou DI, Vargiami E, Hatzidimitriou V, Kyriazi M. Zafeiriou DI, et al. Among authors: vargiami e. J Pediatr. 2013 Nov;163(5):1520. doi: 10.1016/j.jpeds.2013.06.029. Epub 2013 Jul 26. J Pediatr. 2013. PMID: 23896188 No abstract available.
65 results