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Page 1
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Azmanov DN, Zhelyazkova S, Dimova PS, Radionova M, Bojinova V, Florez L, Smith SJ, Tournev I, Jablensky A, Mulley J, Scheffer I, Kalaydjieva L, Sander JW. Azmanov DN, et al. Among authors: dimova ps. Epileptic Disord. 2010 Jun;12(2):117-24. doi: 10.1684/epd.2010.0311. Epileptic Disord. 2010. PMID: 20562086 Free article.
Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome.
Ivanova N, Peycheva V, Kamenarova K, Kancheva D, Tsekova I, Aleksandrova I, Hristova D, Litvinenko I, Todorova D, Sarailieva G, Dimova P, Tomov V, Bozhinova V, Mitev V, Kaneva R, Jordanova A. Ivanova N, et al. Seizure. 2018 Jan;54:41-44. doi: 10.1016/j.seizure.2017.11.014. Epub 2017 Nov 28. Seizure. 2018. PMID: 29223885 Free article.
Anaplastic ganglioglioma-A diagnosis comprising several distinct tumour types.
Reinhardt A, Pfister K, Schrimpf D, Stichel D, Sahm F, Reuss DE, Capper D, Wefers AK, Ebrahimi A, Sill M, Felsberg J, Reifenberger G, Becker A, Prinz M, Staszewski O, Hartmann C, Schittenhelm J, Gramatzki D, Weller M, Olar A, Rushing EJ, Bergmann M, Farrell MA, Blümcke I, Coras R, Beckervordersandforth J, Kim SH, Rogerio F, Dimova PS, Niehusmann P, Unterberg A, Platten M, Pfister SM, Wick W, Herold-Mende C, von Deimling A. Reinhardt A, et al. Among authors: dimova ps. Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12847. doi: 10.1111/nan.12847. Epub 2022 Sep 16. Neuropathol Appl Neurobiol. 2022. PMID: 35977725 Free article.
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M; DDD Study; Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB. Koolen DA, et al. Among authors: dimova ps. Eur J Hum Genet. 2016 May;24(5):652-9. doi: 10.1038/ejhg.2015.178. Epub 2015 Aug 26. Eur J Hum Genet. 2016. PMID: 26306646 Free PMC article.
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