Projects funded by the NCN


Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

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Searching for novel molecular pathways dysregulated in pathophysiology of amyotrophic lateral sclerosis

2015/17/D/NZ2/03712

Keywords:

transcriptome amyotrophic lateral sclerosis

Descriptors:

  • NZ2_1: Molecular genetics
  • NZ2_2: Genomics, transcriptomics, epigenomics

Panel:

NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology

Host institution :

Instytut Medycyny Doświadczalnej i Klinicznej im. Mirosława Mossakowskiego PAN

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Mariusz Berdyński 

Number of co-investigators in the project: 5

Call: SONATA 9 - announced on 2015-03-16

Amount awarded: 630 600 PLN

Project start date (Y-m-d): 2016-02-25

Project end date (Y-m-d): 2020-02-24

Project duration:: 48 months (the same as in the proposal)

Project status: Project settled

Project description

Download the project description in a pdf file

Note - project descriptions were prepared by the authors of the applications themselves and placed in the system in an unchanged form.

Equipment purchased [PL]

  1. komora laminarna.
  2. inkubator.

Information in the final report

  • Publication in academic press/journals (3)
  1. 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
    Authors:
    Magdalena Kuźma-Kozakiewicz, Peter M. Andersen, Elahe Elahi, Afagh Alavi, Peter C. Sapp, Mitsuya Morita, Cezary Żekanowski, Mariusz Berdyński
    Academic press:
    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (rok: 2021, tom: Volume 22, strony: 80-85), Wydawca: Taylor & Francis Group
    Status:
    Published
    DOI:
    10.1080/21678421.2020.1803359 - link to the publication
  2. SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity
    Authors:
    Berdyński M, Miszta P, Safranow K, Andersen PM, Morita M, Filipek S, Żekanowski C, Kuźma-Kozakiewicz M.
    Academic press:
    Scientific Reports (rok: 2022, tom: 12, strony: 103), Wydawca: Springer Nature Limited
    Status:
    Published
    DOI:
    10.1038/s41598-021-03891-8 - link to the publication
  3. TREM2 variants in neurodegenerative disordersin the Polish population. Homozygosity andcompound heterozygosity in FTD patients
    Authors:
    Beata Peplonska, Mariusz Berdynski, Monika Mandecka, Anna Barczak,Magdalena Kuzma-Kozakiewicz, Maria Barcikowska,Cezary Zekanowski
    Academic press:
    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (rok: 2018, tom: Volume 19, strony: 407-412), Wydawca: Taylor & Francis Group
    Status:
    Published
    DOI:
    10.1080/21678421.2018.1451894 - link to the publication