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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Investigation and characteristic of molecular etiology of chloride channels disfunction in Thomsen/Becker myotonia.

2013/11/D/NZ5/03585

Keywords:

CLCN1 gene chloride channel congenital myotonia

Descriptors:

  • NZ5_1: Etiology of human diseases
  • NZ5_5: Diagnostics in human diseases
  • NZ5_3: Pathogenesis of human diseases

Panel:

NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)

Host institution :

Instytut Psychiatrii i Neurologii

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Wioletta Krysa 

Number of co-investigators in the project: 5

Call: SONATA 6 - announced on 2013-09-16

Amount awarded: 437 600 PLN

Project start date (Y-m-d): 2014-08-27

Project end date (Y-m-d): 2018-08-26

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

Project status: Project settled

Equipment purchased [PL]

  1. Przenośny komputer (laptop) z pełnym oprogramowaniem. (5 000 PLN)
  2. macierz dyskowa Synology Disk Station DS1515+5xDysk NAS HDD 3.5"4TB.
  3. Oprogramowanie Mutation Surveyor (SoftGenetics) - licencja na pełną wersję (15 000 PLN)
  4. dysk zewnętrzny 2TB USB 3.0.

Information in the final report

  • Publication in academic press/journals (2)
  1. The needle EMG findings in myotonia congenita.
    Authors:
    Nojszewska M, Lusakowska A, Gawel M, Sierdzinski J, Sulek A, Krysa W, Elert-Dobkowska E, Seroka A, Kaminska AM, Kostera-Pruszczyk A.
    Academic press:
    Journal of Electromyography and Kinesiology (rok: 2019, tom: 49, strony: 102362), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.jelekin.2019.102362 - link to the publication
  2. Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
    Authors:
    Anna Sulek, Anna Lusakowska, Wioletta Krysa, Marta Rajkiewicz, Anna Kaminska, Monika Nojszewska, Anna Kostera-Pruszczyk, Elzbieta Zdzienicka, Jolanta Kubalska, Maria Rakowicz, Walentyna Szirkowiec, Hubert Kwiecinski, Jacek Zaremba.
    Academic press:
    Neurologia i Neurochirurgia Polska (rok: 2018, tom: 52, strony: 736-742), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.pjnns.2018.02.008. - link to the publication

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