Feil Family Brain & Mind Research Institute

Publications

Found 2 results
Author Title Type [ Year(Desc)]
Filters: Author is Nikoncuk, Anita  [Clear All Filters]
2019
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D et al..  2019.  Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.. Acta Neuropathol.
2021
Salsench EMedico, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M et al..  2021.  Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.. Brain.