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Association of Rare Variants in ARSA with Parkinson's Disease.
Senkevich K, Beletskaia M, Dworkind A, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Nagornov I, Tyurin A, Miliukhina I, Timofeeva A, Emelyanov A, Trempe JF, Zakharova E, Alcalay RN, Pchelina S, Gan-Or Z. Senkevich K, et al. Among authors: zakharova e. Mov Disord. 2023 Oct;38(10):1806-1812. doi: 10.1002/mds.29521. Epub 2023 Jun 28. Mov Disord. 2023. PMID: 37381728
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.
Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.
Bostanova FM, Tsygankova PG, Larshina EA, Nagornov IO, Evseeva YV, Krutikhina IL, Dzhentemirova ME, Kashlakova MN, Petukhova MS, Sharkova IV, Zakharova EY. Bostanova FM, et al. Among authors: zakharova ey. Genes (Basel). 2024 May 11;15(5):615. doi: 10.3390/genes15050615. Genes (Basel). 2024. PMID: 38790244 Free PMC article.
Capacity for the management of kidney failure in the International Society of Nephrology Newly Independent States and Russia region: report from the 2023 ISN Global Kidney Health Atlas (ISN-GKHA).
Prikhodina L, Komissarov K, Bulanov N, Arruebo S, Bello AK, Caskey FJ, Damster S, Donner JA, Jha V, Johnson DW, Levin A, Malik C, Nangaku M, Okpechi IG, Tonelli M, Ye F, Gaipov A; Regional Board and ISN-GKHA Team Authors. Prikhodina L, et al. Kidney Int Suppl (2011). 2024 Apr;13(1):71-82. doi: 10.1016/j.kisu.2024.01.005. Epub 2024 Apr 8. Kidney Int Suppl (2011). 2024. PMID: 38618496 Free PMC article. Review.
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.
473 results