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Page 1
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: kremensky i. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.
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. Among authors: kremensky i. 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.
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmüller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L. Hunter M, et al. Among authors: kremensky i. Hum Mutat. 2003 Aug;22(2):129-35. doi: 10.1002/humu.10240. Hum Mutat. 2003. PMID: 12872253
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V. Jordanova A, et al. Among authors: kremensky i. Nat Genet. 2006 Feb;38(2):197-202. doi: 10.1038/ng1727. Epub 2006 Jan 22. Nat Genet. 2006. PMID: 16429158 Free article.
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R. Kalaydjieva L, et al. Among authors: kremensky i. Am J Hum Genet. 1999 Nov;65(5):1299-307. doi: 10.1086/302611. Am J Hum Genet. 1999. PMID: 10521295 Free PMC article.
Deletion analysis of Bulgarian SMA families.
Jordanova A, Stoyanova V, Uzunova M, Litvinenko I, Kremensky I. Jordanova A, et al. Among authors: kremensky i. 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
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Jordanova A, et al. Among authors: kremensky i. Brain. 2003 Mar;126(Pt 3):590-7. doi: 10.1093/brain/awg059. Brain. 2003. PMID: 12566280
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, Kremensky I, Van Den Bosch L, Robberecht W, Van Vandekerckhove J, Van Broeckhoven C, Gettemans J, De Jonghe P, Timmerman V. Irobi J, et al. Among authors: kremensky i. Nat Genet. 2004 Jun;36(6):597-601. doi: 10.1038/ng1328. Epub 2004 May 2. Nat Genet. 2004. PMID: 15122253
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: kremensky i. Clin Genet. 2006 Dec;70(6):490-5. doi: 10.1111/j.1399-0004.2006.00705.x. Clin Genet. 2006. PMID: 17100993
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. Among authors: kremensky i. Neuromuscul Disord. 2002 May;12(4):378-85. doi: 10.1016/s0960-8966(01)00283-8. Neuromuscul Disord. 2002. PMID: 12062256
91 results