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The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.
Piekutowska-Abramczuk D, Kaliszewska M, Sułek A, Jurkowska N, Ołtarzewski M, Jabłońska E, Trubicka J, Głowacka A, Ciara E, Kowalski P, Langiewicz-Wojciechowska K, Tesarova M, Zeman J, Kierdaszuk B, Kuczyński D, Chmielewski D, Szymańska E, Bakuła A, Łusakowska A, Lipowska M, Brodacki B, Pera J, Dorobek M, Rydzanicz M, Płoski R, Chrzanowska KH, Bartnik E, Placha G, Kamińska A, Kostera-Pruszczyk A, Krajewska-Walasek M, Tońska K, Pronicka E. Piekutowska-Abramczuk D, et al. Mitochondrion. 2019 Jul;47:179-187. doi: 10.1016/j.mito.2018.11.004. Epub 2018 Nov 10. Mitochondrion. 2019. PMID: 30423451 Clinical Trial.
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA).
Oskoui M, Day JW, Deconinck N, Mazzone ES, Nascimento A, Saito K, Vuillerot C, Baranello G, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Papp G, Gorni K, Kletzl H, Martin C, McIver T, Scalco RS, Staunton H, Yeung WY, Fontoura P, Mercuri E; SUNFISH Working Group. Oskoui M, et al. J Neurol. 2023 May;270(5):2531-2546. doi: 10.1007/s00415-023-11560-1. Epub 2023 Feb 3. J Neurol. 2023. PMID: 36735057 Free PMC article. Clinical Trial.
MuSK-positive myasthenia gravis is rare in the Polish population.
Kostera-Pruszczyk A, Kamińska A, Dutkiewicz M, Emeryk-Szajewska B, Strugalska-Cynowska MH, Vincent A, Kwieciński H. Kostera-Pruszczyk A, et al. Eur J Neurol. 2008 Jul;15(7):720-4. doi: 10.1111/j.1468-1331.2008.02176.x. Epub 2008 May 20. Eur J Neurol. 2008. PMID: 18494794
Carpal tunnel syndrome in children.
Potulska-Chromik A, Lipowska M, Gawel M, Ryniewicz B, Maj E, Kostera-Pruszczyk A. Potulska-Chromik A, et al. J Child Neurol. 2014 Feb;29(2):227-31. doi: 10.1177/0883073813504458. Epub 2013 Oct 1. J Child Neurol. 2014. PMID: 24084629
158 results