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NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A; CAUSES study; Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S; EuroEPINOMICS-RES-MAE working group; Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT. Mulhern MS, et al. Among authors: barca d. Ann Neurol. 2018 Nov;84(5):788-795. doi: 10.1002/ana.25350. Epub 2018 Oct 25. Ann Neurol. 2018. PMID: 30269351 Free PMC article.
Practical clues for diagnosing WWOX encephalopathy.
Tarta-Arsene O, Barca D, Craiu D, Iliescu C. Tarta-Arsene O, et al. Among authors: barca d. Epileptic Disord. 2017 Sep 1;19(3):357-361. doi: 10.1684/epd.2017.0924. Epileptic Disord. 2017. PMID: 28721938
Intellectual disability and epilepsy in down syndrome.
Barca D, Tarta-Arsene O, Dica A, Iliescu C, Budisteanu M, Motoescu C, Butoianu N, Craiu D. Barca D, et al. Maedica (Bucur). 2014 Dec;9(4):344-50. Maedica (Bucur). 2014. PMID: 25705303 Free PMC article.
Testing blood and CSF in people with epilepsy: a practical guide.
Sutton F, Barca D, Komoltsev I, Craiu D, Guekht A, von Oertzen T, Cock HR. Sutton F, et al. Among authors: barca d. Epileptic Disord. 2020 Aug 1;22(4):381-398. doi: 10.1684/epd.2020.1191. Epileptic Disord. 2020. PMID: 32782232 Review.
Ketogenic Diet in Patients with GLUT1 Deficiency Syndrome.
Sandu C, Burloiu CM, Barca DG, Magureanu SA, Craiu DC. Sandu C, et al. Maedica (Bucur). 2019 Jun;14(2):93-97. doi: 10.26574/maedica.2019.14.2.93. Maedica (Bucur). 2019. PMID: 31523287 Free PMC article.
Diagnostic approach of angelman syndrome.
Duca DG, Craiu D, Boer M, Chirieac SM, Arghir A, Tutulan-Cunita A, Barca D, Iliescu C, Lungeanu A, Magureanu S, Budisteanu M. Duca DG, et al. Among authors: barca d. Maedica (Bucur). 2013 Sep;8(4):321-7. Maedica (Bucur). 2013. PMID: 24790661 Free PMC article.
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: barca d. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
37 results