Mariusz Berdyński - Search Results

Year	Number of Results
2009	1
2010	1
2011	1
2012	3
2013	4
2014	5
2015	2
2016	1
2017	1
2018	2
2020	1
2021	6
2022	2
2023	1
2024	0

1

Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer's Disease Case.

Wężyk M, Berdyński M, Figarski A, Skrzypczak M, Ginalski K, Zboch M, Winkel I, Żekanowski C. Wężyk M, et al. Among authors: berdynski m. Int J Mol Sci. 2023 Nov 30;24(23):16999. doi: 10.3390/ijms242316999. Int J Mol Sci. 2023. PMID: 38069323 Free PMC article.

2

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

3

Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population.

Berdyński M, Krawczyk P, Safranow K, Borzemska B, Szaflik JP, Nowakowska-Żawrocka K, Żekanowski C, Giebułtowicz J. Berdyński M, et al. J Clin Med. 2021 Dec 21;11(1):8. doi: 10.3390/jcm11010008. J Clin Med. 2021. PMID: 35011749 Free PMC article.

4

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.

Berdyński M, Miszta P, Safranow K, Andersen PM, Morita M, Filipek S, Żekanowski C, Kuźma-Kozakiewicz M. Berdyński M, et al. Sci Rep. 2022 Jan 7;12(1):103. doi: 10.1038/s41598-021-03891-8. Sci Rep. 2022. PMID: 34996976 Free PMC article.

5

Two Rare Variants in PLAU and BACE1 Genes-Do They Contribute to Semantic Dementia Clinical Phenotype?

Gaweda-Walerych K, Sitek EJ, Borczyk M, Berdyński M, Narożańska E, Brockhuis B, Korostyński M, Sławek J, Zekanowski C. Gaweda-Walerych K, et al. Among authors: berdynski m. Genes (Basel). 2021 Nov 17;12(11):1806. doi: 10.3390/genes12111806. Genes (Basel). 2021. PMID: 34828412 Free PMC article.

6

Rare Variant in the SLC6A2 Encoding a Norepinephrine Transporter Is Associated with Elite Athletic Performance in the Polish Population.

Fichna JP, Humińska-Lisowska K, Safranow K, Adamczyk JG, Cięszczyk P, Żekanowski C, Berdyński M. Fichna JP, et al. Among authors: berdynski m. Genes (Basel). 2021 Jun 15;12(6):919. doi: 10.3390/genes12060919. Genes (Basel). 2021. PMID: 34203885 Free PMC article.

7

Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency.

Gaweda-Walerych K, Walerych D, Berdyński M, Buratti E, Zekanowski C. Gaweda-Walerych K, et al. Among authors: berdynski m. Front Mol Neurosci. 2021 May 13;14:676478. doi: 10.3389/fnmol.2021.676478. eCollection 2021. Front Mol Neurosci. 2021. PMID: 34054428 Free PMC article.

8

Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports.

Pepłońska B, Piestrzynska-Kajtoch A, Humińska-Lisowska K, Adamczyk JG, Siewierski M, Gurgul A, Fornal A, Michałowska-Sawczyn M, Żekanowski C, Cięszczyk P, Berdyński M. Pepłońska B, et al. Among authors: berdynski m. Genes (Basel). 2021 Feb 11;12(2):262. doi: 10.3390/genes12020262. Genes (Basel). 2021. PMID: 33670313 Free PMC article.

9

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. Among authors: berdynski m. 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

10

TREM2 variants in neurodegenerative disorders in the Polish population. Homozygosity and compound heterozygosity in FTD patients.

Peplonska B, Berdynski M, Mandecka M, Barczak A, Kuzma-Kozakiewicz M, Barcikowska M, Zekanowski C. Peplonska B, et al. Among authors: berdynski m. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):407-412. doi: 10.1080/21678421.2018.1451894. Epub 2018 Mar 20. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 29557178

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