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Page 1
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Leen WG, et al. Among authors: evangeliou a. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA. Lefeber DJ, et al. Among authors: evangeliou a. Am J Hum Genet. 2009 Jul;85(1):76-86. doi: 10.1016/j.ajhg.2009.06.006. Epub 2009 Jul 2. Am J Hum Genet. 2009. PMID: 19576565 Free PMC article.
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
Spilioti M, Evangeliou AE, Tramma D, Theodoridou Z, Metaxas S, Michailidi E, Bonti E, Frysira H, Haidopoulou A, Asprangathou D, Tsalkidis AJ, Kardaras P, Wevers RA, Jakobs C, Gibson KM. Spilioti M, et al. Among authors: evangeliou ae. Front Hum Neurosci. 2013 Dec 24;7:858. doi: 10.3389/fnhum.2013.00858. eCollection 2013. Front Hum Neurosci. 2013. PMID: 24399946 Free PMC article.
The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical Manifestations in a Large Kindred.
Fountoulakis N, Lioudaki E, Lygerou D, Dermitzaki EK, Papakitsou I, Kounali V, Holleboom AG, Stratigis S, Belogianni C, Syngelaki P, Stratakis S, Evangeliou A, Gakiopoulou H, Kuivenhoven JA, Wevers R, Dafnis E, Stylianou K. Fountoulakis N, et al. Among authors: evangeliou a. Am J Kidney Dis. 2019 Oct;74(4):510-522. doi: 10.1053/j.ajkd.2019.03.422. Epub 2019 May 15. Am J Kidney Dis. 2019. PMID: 31103331
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: evangeliou a. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Barthélémy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, Lévy N, Bartoli M, De Sandre-Giovannoli A. Barthélémy F, et al. Among authors: evangeliou ae. Eur J Hum Genet. 2015 Aug;23(8):1051-61. doi: 10.1038/ejhg.2014.239. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649378 Free PMC article.
Valproate effect on ketosis in children under ketogenic diet.
Spilioti M, Pavlou E, Gogou M, Katsanika I, Papadopoulou-Alataki E, Grafakou O, Gkampeta A, Dinopoulos A, Evangeliou A. Spilioti M, et al. Among authors: evangeliou a. Eur J Paediatr Neurol. 2016 Jul;20(4):555-9. doi: 10.1016/j.ejpn.2016.04.003. Epub 2016 Apr 13. Eur J Paediatr Neurol. 2016. PMID: 27117552 Clinical Trial.
Branched chain amino acids as adjunctive therapy to ketogenic diet in epilepsy: pilot study and hypothesis.
Evangeliou A, Spilioti M, Doulioglou V, Kalaidopoulou P, Ilias A, Skarpalezou A, Katsanika I, Kalamitsou S, Vasilaki K, Chatziioanidis I, Garganis K, Pavlou E, Varlamis S, Nikolaidis N. Evangeliou A, et al. J Child Neurol. 2009 Oct;24(10):1268-72. doi: 10.1177/0883073809336295. Epub 2009 Aug 17. J Child Neurol. 2009. PMID: 19687389 Clinical Trial.
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.
Contopoulos-Ioannidis D, Evangeliou A, ter Laak H, de Vries B, Pfundt R, Scheffer H, Smeitink J, Tzoufi M, Makis A, Marinos E, Hess R, Adams D, Huizing M, Morava E. Contopoulos-Ioannidis D, et al. Among authors: evangeliou a. Am J Med Genet A. 2008 Dec 1;146A(23):3100-3. doi: 10.1002/ajmg.a.32569. Am J Med Genet A. 2008. PMID: 19006216 Free PMC article. No abstract available.
95 results