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Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.
Berdyński M, Kuźma-Kozakiewicz M, Ricci C, Kubiszewska J, Millecamps S, Salachas F, Łusakowska A, Carrera P, Meininger V, Battistini S, Kwieciński H, Zekanowski C. Berdyński M, et al. Among authors: kwiecinski h. Amyotroph Lateral Scler. 2012 Jan;13(1):132-6. doi: 10.3109/17482968.2011.600316. Epub 2011 Aug 30. Amyotroph Lateral Scler. 2012. PMID: 21877919
Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis.
Kuźma-Kozakiewicz M, Berdyński M, Morita M, Takahashi Y, Kawata A, Kaida K, Kaźmierczak B, Lusakowska A, Goto J, Tsuji S, Zekanowski C, Kwieciński H. Kuźma-Kozakiewicz M, et al. Among authors: kwiecinski h. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):608-14. doi: 10.3109/21678421.2013.812119. Epub 2013 Jul 30. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 23898858
The genetics of amyotrophic lateral sclerosis.
Kuźma-Kozakiewicz M, Kwieciński H. Kuźma-Kozakiewicz M, et al. Among authors: kwiecinski h. Neurol Neurochir Pol. 2009 Nov-Dec;43(6):538-49. Neurol Neurochir Pol. 2009. PMID: 20054757 Review.
New therapeutic targets for amyotrophic lateral sclerosis.
Kuzma-Kozakiewicz M, Kwiecinski H. Kuzma-Kozakiewicz M, et al. Among authors: kwiecinski h. Expert Opin Ther Targets. 2011 Feb;15(2):127-43. doi: 10.1517/14728222.2011.542152. Epub 2010 Dec 7. Expert Opin Ther Targets. 2011. PMID: 21133819 Review.
Mitochondrial encephalomyopathy: towards diagnosis. A case report.
Gaweł M, Kierdaszuk B, Tońska K, Kaliszewska M, Kubiszewska J, Jamrozik Z, Bartnik E, Kwieciński H, Kamińska AM. Gaweł M, et al. Among authors: kwiecinski h. Neurol Neurochir Pol. 2014 Jan-Feb;48(1):76-80. doi: 10.1016/j.pjnns.2013.09.003. Epub 2014 Jan 23. Neurol Neurochir Pol. 2014. PMID: 24636775
Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
Sulek A, Lusakowska A, Krysa W, Rajkiewicz M, Kaminska A, Nojszewska M, Kostera-Pruszczyk A, Zdzienicka E, Kubalska J, Rakowicz M, Szirkowiec W, Kwiecinski H, Zaremba J. Sulek A, et al. Among authors: kwiecinski h. Neurol Neurochir Pol. 2018 Nov-Dec;52(6):736-742. doi: 10.1016/j.pjnns.2018.02.008. Epub 2018 Mar 7. Neurol Neurochir Pol. 2018. PMID: 29588063
190 results