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Page 1
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries.
Chandler D, Angelicheva D, Heather L, Gooding R, Gresham D, Yanakiev P, de Jonge R, Baas F, Dye D, Karagyozov L, Savov A, Blechschmidt K, Keats B, Thomas PK, King RH, Starr A, Nikolova A, Colomer J, Ishpekova B, Tournev I, Urtizberea JA, Merlini L, Butinar D, Chabrol B, Voit T, Baethmann M, Nedkova V, Corches A, Kalaydjieva L. Chandler D, et al. Among authors: nedkova v. Neuromuscul Disord. 2000 Dec;10(8):584-91. doi: 10.1016/s0960-8966(00)00148-6. Neuromuscul Disord. 2000. PMID: 11053686
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: nedkova v. Am J Hum Genet. 1999 Nov;65(5):1299-307. doi: 10.1086/302611. Am J Hum Genet. 1999. PMID: 10521295 Free PMC article.
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, Briones P, Gata A, de Pablo R, László A, Bosshard N, Gitzelmann R, Tordai A, Kalmar L, Szalai C, Balogh I, Lupu C, Corches A, Popa G, Perez-Lezaun A, Kalaydjieva LV. Hunter M, et al. Among authors: nedkova v. Pediatr Res. 2002 May;51(5):602-6. doi: 10.1203/00006450-200205000-00010. Pediatr Res. 2002. PMID: 11978884
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Bermejo-Guerrero L, de Fuenmayor Fernández-de la Hoz CP, González-Quereda L, Segarra-Casas A, Nedkova V, Gallano P, Martín-Jiménez P, Hernández-Laín A, Olivé M, Arteche-López A, Domínguez-González C. Bermejo-Guerrero L, et al. Among authors: nedkova v. Neuromuscul Disord. 2023 Dec;33(12):983-987. doi: 10.1016/j.nmd.2023.10.016. Epub 2023 Oct 30. Neuromuscul Disord. 2023. PMID: 38016875
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
de Bruyn A, Montagnese F, Holm-Yildiz S, Scharff Poulsen N, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG. de Bruyn A, et al. Among authors: nedkova v. Brain. 2023 Sep 1;146(9):3800-3815. doi: 10.1093/brain/awad088. Brain. 2023. PMID: 36913258
Clinical characteristics and outcomes of thymoma-associated myasthenia gravis.
Álvarez-Velasco R, Gutiérrez-Gutiérrez G, Trujillo JC, Martínez E, Segovia S, Arribas-Velasco M, Fernández G, Paradas C, Vélez-Gómez B, Casasnovas C, Nedkova V, Guerrero-Sola A, Ramos-Fransi A, Martínez-Piñeiro A, Pardo J, Sevilla T, Gómez-Caravaca MT, López de Munain A, Jericó I, Pelayo-Negro AL, Martín MA, Morgado Y, Mendoza MD, Pérez-Pérez H, Rojas-García R, Turon-Sans J, Querol L, Gallardo E, Illa I, Cortés-Vicente E. Álvarez-Velasco R, et al. Among authors: nedkova v. Eur J Neurol. 2021 Jun;28(6):2083-2091. doi: 10.1111/ene.14820. Epub 2021 Mar 30. Eur J Neurol. 2021. PMID: 33721382
22 results