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Year Number of Results
2002 1
2005 1
2007 1
2008 2
2010 2
2011 1
2013 3
2014 3
2015 1
2017 1
2018 2
2019 6
2020 10
2021 17
2022 16
2023 16
2024 3

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77 results

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Page 1
The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene.
Usenko TS, Timofeeva A, Beletskaia M, Basharova K, Baydakova G, Bezrukova A, Grunina M, Emelyanov A, Miliukhina I, Zakharova E, Pchelina S. Usenko TS, et al. Among authors: zakharova e. J Integr Neurosci. 2024 Jan 16;23(1):16. doi: 10.31083/j.jin2301016. J Integr Neurosci. 2024. PMID: 38287861 Free article.
Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia.
Usenko T, Bezrukova A, Basharova K, Baydakova G, Shagimardanova E, Blatt N, Rizvanov A, Limankin O, Novitskiy M, Shnayder N, Izyumchenko A, Nikolaev M, Zabotina A, Lavrinova A, Kulabukhova D, Nasyrova R, Palchikova E, Zalutskaya N, Miliukhina I, Barbitoff Y, Glotov O, Glotov A, Taraskina A, Neznanov N, Zakharova E, Pchelina S. Usenko T, et al. Among authors: zakharova e. Metabolites. 2023 Dec 31;14(1):30. doi: 10.3390/metabo14010030. Metabolites. 2023. PMID: 38248833 Free PMC article.
Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI.
Kondrateva E, Grigorieva O, Panchuk I, Bychkov I, Zakharova E, Tabakov V, Pozhitnova V, Voronina E, Shchagina O, Lavrov A, Smirnikhina S, Kutsev S. Kondrateva E, et al. Among authors: zakharova e. Stem Cell Res. 2023 Dec;73:103259. doi: 10.1016/j.scr.2023.103259. Epub 2023 Nov 22. Stem Cell Res. 2023. PMID: 38006675 Free article.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnytė B, Calvo PL, Crushell E, Dalgiç B, Das AM, Dezsőfi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaçlioğlu CT, Knoppke B, Kohl M, Kölbel H, Kölker S, Konstantopoulou V, Krylova T, Kuloğlu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McClean P, McLin V, Mention K, Müller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petković Ramadža D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel GF, Wagner M, van der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C, Prokisch H. Lenz D, et al. Among authors: zakharova e. Hepatology. 2024 May 1;79(5):1075-1087. doi: 10.1097/HEP.0000000000000684. Epub 2023 Nov 16. Hepatology. 2024. PMID: 37976411 Free PMC article.
Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice.
Miroshnikova VV, Vasiluev PA, Linkova SV, Soloviov VM, Ivanova ON, Tolmacheva ER, Udalova VY, Baranova PV, Aleksandrova DY, Strokova TV, Miklashevich IM, Izumchenko AD, Dracheva KV, Grunina MN, Smirnova NN, Kuchina AS, Zakharova EY, Pchelina SN. Miroshnikova VV, et al. Among authors: zakharova ey. J Pers Med. 2023 Oct 14;13(10):1492. doi: 10.3390/jpm13101492. J Pers Med. 2023. PMID: 37888103 Free PMC article.
77 results