Investigation and characteristic of molecular etiology of chloride channels disfunction in Thomsen/Becker myotonia.
2013/11/D/NZ5/03585
Keywords
Descriptors
- NZ5_1: Etiologia chorób człowieka
- NZ5_5: Diagnostyka chorób człowieka
- NZ5_3: Patogeneza chorób człowieka
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
Voivodeship: mazowieckie
Principal investigator (from the host institution)
Number of co-investigators in the project: 5
Call
SONATA 6 – announced on 2013-09-16
- Amount awarded
- 437 600 PLN
- Project start date
- 2014-08-27
- Project end date
- 2018-08-26
- Project duration
- 48 months (the same as in the proposal)
- Project status
- Project settled
Equipment purchased [PL]
- Przenośny komputer (laptop) z pełnym oprogramowaniem.. Cost: 5 000 PLN
- Oprogramowanie Mutation Surveyor (SoftGenetics) - licencja na pełną wersję. Cost: 15 000 PLN
- dysk zewnętrzny 2TB USB 3.0.
- macierz dyskowa Synology Disk Station DS1515+5xDysk NAS HDD 3.5"4TB.
Information in the final report
Publication in academic press/journals (2)
-
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 (year: 2019, volume: 49, pages: 102362), Publisher: Elsevier
- Status:
- Published
- DOI:
- 10.1016/j.jelekin.2019.102362 – link to the publication
-
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 (year: 2018, volume: 52, pages: 736-742), Publisher: Elsevier
- Status:
- Published
- DOI:
- 10.1016/j.pjnns.2018.02.008. – link to the publication