Search results
- 1.0585854 - ÚMG 2025 RIV CH eng J - Journal Article
Jaervelae, V. - Hamze, M. - Komulainen-Ebrahim, J. - Rahikkala, E. - Piispala, J. - Kallio, M. - Kangas, S. M. - Nickl, Tereza - Huttula, M. - Hinttala, R. - Uusimaa, J. - Medina, I. - Immonen, E.
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
Frontiers in Molecular Neuroscience. Roč. 17, Apr (2024), č. článku 1372662. ISSN 1662-5099. E-ISSN 1662-5099
Institutional support: RVO:68378050
Keywords : k-cl cotransporter * gaba * expression * phosphorylation * mutation * neurons * server * ph * gaba * potassium-chloride co-transporter * chloride * Cl- * epilepsy * neurodevelopmental disorder
OECD category: Biochemistry and molecular biology
Impact factor: 4.8, year: 2022
Method of publishing: Open access
https://www.frontiersin.org/articles/10.3389/fnmol.2024.1372662/full
Permanent Link: https://hdl.handle.net/11104/0353523 - 2.0554550 - ÚMG 2023 RIV US eng J - Journal Article
Ehlich, H. - Cater, H. - Flenniken, A.M. - Goncalves Da Cruz, I. - Mura, A. - Ntafis, V. - Raess, M. - Selloum, M. - Stoeger, C. - Suchanová, Šárka - Vuolteenaho, R. - Brown s, S.D.M. - Herault, Y. - Hinttala, R. - Hrabe de Angelis, M. - Kollias, G. - Kontoyiannis, D.L. - Malissen, B. - McKerlie, C. - Sedláček, Radislav - Wells, S. - Zarubica, A. - Rozman, Jan - Sorg, T.
INFRAFRONTIER quality principles in systemic phenotyping.
Mammalian Genome. Roč. 33, č. 1 (2022), s. 120-122. ISSN 0938-8990. E-ISSN 1432-1777
R&D Projects: GA MŠMT(CZ) LM2018126
Research Infrastructure: CCP II - 90126
Institutional support: RVO:68378050
Keywords : quality control * phenotyping * animal model * reproducibility * replicability * ethics
OECD category: Genetics and heredity (medical genetics to be 3)
Impact factor: 2.5, year: 2022
Method of publishing: Limited access
https://link.springer.com/article/10.1007/s00335-021-09892-2
Permanent Link: http://hdl.handle.net/11104/0329526