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146 results

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Page 1
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. Among authors: jordanova a. Seizure. 2018 Jan;54:41-44. doi: 10.1016/j.seizure.2017.11.014. Epub 2017 Nov 28. Seizure. 2018. PMID: 29223885 Free article.
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Armirola-Ricaurte C, Morant L, Adant I, Hamed SA, Pipis M, Efthymiou S, Amor-Barris S, Atkinson D, Van de Vondel L, Tomic A, de Vriendt E, Zuchner S, Ghesquiere B, Hanna M, Houlden H, Lunn MP, Reilly MM, Rasic VM, Jordanova A. Armirola-Ricaurte C, et al. Among authors: jordanova a. medRxiv [Preprint]. 2024 Jul 4:2024.07.03.24309787. doi: 10.1101/2024.07.03.24309787. medRxiv. 2024. PMID: 39006432 Free PMC article. Preprint.
Deletion analysis of Bulgarian SMA families.
Jordanova A, Stoyanova V, Uzunova M, Litvinenko I, Kremensky I. Jordanova A, et al. Hum Mutat. 1998;12(1):33-8. doi: 10.1002/(SICI)1098-1004(1998)12:1<33::AID-HUMU5>3.0.CO;2-Y. Hum Mutat. 1998. PMID: 9633817
Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary.
Jordanova A, Kargaci V, Kremensky I, Litvinenko I, Uzunova M, Turnev I, Ishpekova B, Herzegfalvi A, Simeonova I, Kalaydjieva L. Jordanova A, et al. Neuromuscul Disord. 2002 May;12(4):378-85. doi: 10.1016/s0960-8966(01)00283-8. Neuromuscul Disord. 2002. PMID: 12062256
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.
Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V. Jordanova A, et al. Am J Hum Genet. 2003 Dec;73(6):1423-30. doi: 10.1086/379792. Epub 2003 Nov 6. Am J Hum Genet. 2003. PMID: 14606043 Free PMC article.
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
Ivanova N, Löfgren A, Tournev I, Rousev R, Andreeva A, Jordanova A, Georgieva V, Deconinck T, Timmerman V, Kremensky I, De Jonghe P, Mitev V. Ivanova N, et al. Among authors: jordanova a. Clin Genet. 2006 Dec;70(6):490-5. doi: 10.1111/j.1399-0004.2006.00705.x. Clin Genet. 2006. PMID: 17100993
Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zámecník J, Ceulemans B, Erichsen AK, Björck E, Nicholson G, Sereda MW, Seeman P, Kremensky I, Mitev V, De Jonghe P. Ivanova N, et al. Among authors: jordanova a. Arch Neurol. 2007 May;64(5):706-13. doi: 10.1001/archneur.64.5.706. Arch Neurol. 2007. PMID: 17502470
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Suls A, et al. Among authors: jordanova a. Ann Neurol. 2009 Sep;66(3):415-9. doi: 10.1002/ana.21724. Ann Neurol. 2009. PMID: 19798636
146 results