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Feil Family Brain & Mind Research Institute

Publications

Found 2 results
Author Title Type [ Year(Asc)]
Filters: Author is Barakat, Tahsin Stefan  [Clear All Filters]
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.
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.