Feil Family Brain & Mind Research Institute

Publications

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Filters: Author is Jacobs, Edwin H  [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.