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132 results

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Page 1
Metabolic determinants of NAFLD in adults with type 1 diabetes.
Serdarova M, Dimova R, Chakarova N, Grozeva G, Todorova A, Tsarkova P, Marinova C, Popov D, Mateva L, Tankova T. Serdarova M, et al. Among authors: todorova a. Diabetes Res Clin Pract. 2022 Apr;186:109819. doi: 10.1016/j.diabres.2022.109819. Epub 2022 Mar 3. Diabetes Res Clin Pract. 2022. PMID: 35248654
CSII is related to more stable glycemia in adults with type 1 diabetes.
Tsarkova P, Chakarova N, Dimova R, Grozeva G, Todorova A, Serdarova M, Salkova M, Tankova T. Tsarkova P, et al. Among authors: todorova a. Endocrine. 2022 Mar;75(3):776-780. doi: 10.1007/s12020-021-02913-9. Epub 2021 Oct 25. Endocrine. 2022. PMID: 34694598
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez C, Martorell L, Estévez-Arias B, Matalonga L, Laurie S, Jou C, Lau J, Thompson R, Shen X, Engel AG, Nascimento A, Lochmüller H, Selcen D. Natera-de Benito D, et al. Among authors: todorova a. Pediatr Neurol. 2024 May 9;157:5-13. doi: 10.1016/j.pediatrneurol.2024.04.027. Online ahead of print. Pediatr Neurol. 2024. PMID: 38833907
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. Karayol R, et al. Among authors: todorova a. Am J Hum Genet. 2024 May 28:S0002-9297(24)00164-2. doi: 10.1016/j.ajhg.2024.05.001. Online ahead of print. Am J Hum Genet. 2024. PMID: 38815585
Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: todorova a. Eur J Hum Genet. 2024 May 22. doi: 10.1038/s41431-024-01617-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38778080
Primus Inter PARES: First among equals-practical strategies for young adult PAtient RESearch partners (PARES) by young adult PARES.
Rao S, Dimitropoulos G, Jardine R, Quickstad J, Satam L, Qureshi M, Bui T, Todorova AA, Tumaneng Y, Suthakaran A, Dalley K, Smith S, Patten SB; entire HEARTS Study Team. Rao S, et al. Among authors: todorova aa. Res Involv Engagem. 2024 May 8;10(1):45. doi: 10.1186/s40900-024-00576-0. Res Involv Engagem. 2024. PMID: 38720386 Free PMC article.
132 results