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TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M, Ludwiczak J, Barczak A, Barcikowska-Kotowicz M, Kuźma-Kozakiewicz M, Dunin-Horkawicz S, Żekanowski C, Borzemska B. Berdyński M, et al. J Alzheimers Dis. 2022;89(4):1211-1219. doi: 10.3233/JAD-220210. J Alzheimers Dis. 2022. PMID: 36031890
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. 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. 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
Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis.
Kuźma-Kozakiewicz M, Andersen PM, Elahi E, Alavi A, Sapp PC, Morita M, Żekanowski C, Berdyński M. Kuźma-Kozakiewicz M, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Feb;22(1-2):80-85. doi: 10.1080/21678421.2020.1803359. Epub 2020 Aug 10. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 32777948
73 results