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Page 1
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.
Mihaylova V, Scola RH, Gervini B, Lorenzoni PJ, Kay CK, Werneck LC, Stucka R, Guergueltcheva V, von der Hagen M, Huebner A, Abicht A, Müller JS, Lochmüller H. Mihaylova V, et al. Among authors: guergueltcheva v. J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):973-7. doi: 10.1136/jnnp.2009.177816. Epub 2010 Jun 20. J Neurol Neurosurg Psychiatry. 2010. PMID: 20562457 Free article.
Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.
Suls A, Velizarova R, Yordanova I, Deprez L, Van Dyck T, Wauters J, Guergueltcheva V, Claes LR, Kremensky I, Jordanova A, De Jonghe P. Suls A, et al. Among authors: guergueltcheva v. Neurology. 2010 Jul 6;75(1):72-6. doi: 10.1212/WNL.0b013e3181e62088. Epub 2010 May 19. Neurology. 2010. PMID: 20484682
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Guergueltcheva V, et al. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H. Chaouch A, et al. Among authors: guergueltcheva v. J Neurol. 2012 Mar;259(3):474-81. doi: 10.1007/s00415-011-6204-9. Epub 2011 Aug 7. J Neurol. 2012. PMID: 21822932
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
Mihaylova V, Salih MA, Mukhtar MM, Abuzeid HA, El-Sadig SM, von der Hagen M, Huebner A, Nürnberg G, Abicht A, Müller JS, Lochmüller H, Guergueltcheva V. Mihaylova V, et al. Among authors: guergueltcheva v. Neurology. 2009 Dec 1;73(22):1926-8. doi: 10.1212/WNL.0b013e3181c3fce9. Neurology. 2009. PMID: 19949040 No abstract available.
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations.
Tournev I, Kalaydjieva L, Youl B, Ishpekova B, Guergueltcheva V, Kamenov O, Katzarova M, Kamenov Z, Raicheva-Terzieva M, King RH, Romanski K, Petkov R, Schmarov A, Dimitrova G, Popova N, Uzunova M, Milanov S, Petrova J, Petkov Y, Kolarov G, Aneva L, Radeva O, Thomas PK. Tournev I, et al. Among authors: guergueltcheva v. Ann Neurol. 1999 Jun;45(6):742-50. Ann Neurol. 1999. PMID: 10360766
Familial generalized epilepsy in Bulgarian Roma.
Tournev I, Royer B, Szepetowski P, Guergueltcheva V, Radionova M, Velizarova R, Yonova M, Lathrop M, Jamali S, Petkov R, Raycheva M, Genton P. Tournev I, et al. Among authors: guergueltcheva v. Epileptic Disord. 2007 Sep;9(3):300-6. doi: 10.1684/epd.2007.0125. Epub 2007 Sep 20. Epileptic Disord. 2007. PMID: 17884754 Free article.
66 results