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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. 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
Moyamoya syndrome and neurofibromatosis type 1.
Vargiami E, Sapountzi E, Samakovitis D, Batzios S, Kyriazi M, Anastasiou A, Zafeiriou DI. Vargiami E, et al. Ital J Pediatr. 2014 Jun 21;40:59. doi: 10.1186/1824-7288-40-59. Ital J Pediatr. 2014. PMID: 24952383 Free PMC article.
Adolescent obesity: Confessions of the young mind.
Batzios SP, Provatidou M, Christoforidis A, Sidiropoulos H, Cassimos DC. Batzios SP, et al. Metabol Open. 2020 Jul 11;7:100044. doi: 10.1016/j.metop.2020.100044. eCollection 2020 Sep. Metabol Open. 2020. PMID: 32812940 Free PMC article.
26 results