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Loss of UGP2 in brain leads to a severe epileptic encephalo..:
Perenthaler, Elena
;
Nikoncuk, Anita
;
Yousefi, Soheil
...
Acta Neuropathologica. 139 (2019) 3 - p. 415-442 , 2019
Link:
https://doi.org/10.1007/s00401-019-02109-6
RT Journal T1
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
UL https://suche.suub.uni-bremen.de/peid=cr-10.1007_s00401-019-02109-6&Exemplar=1&LAN=DE A1 Perenthaler, Elena A1 Nikoncuk, Anita A1 Yousefi, Soheil A1 Berdowski, Woutje M. A1 Alsagob, Maysoon A1 Capo, Ivan A1 van der Linde, Herma C. A1 van den Berg, Paul A1 Jacobs, Edwin H. A1 Putar, Darija A1 Ghazvini, Mehrnaz A1 Aronica, Eleonora A1 van IJcken, Wilfred F. J. A1 de Valk, Walter G. A1 Medici-van den Herik, Evita A1 van Slegtenhorst, Marjon A1 Brick, Lauren A1 Kozenko, Mariya A1 Kohler, Jennefer N. A1 Bernstein, Jonathan A. A1 Monaghan, Kristin G. A1 Begtrup, Amber A1 Torene, Rebecca A1 Al Futaisi, Amna A1 Al Murshedi, Fathiya A1 Mani, Renjith A1 Al Azri, Faisal A1 Kamsteeg, Erik-Jan A1 Mojarrad, Majid A1 Eslahi, Atieh PB Springer Science and Business Media LLC YR 2019 SN 0001-6322 SN 1432-0533 JF Acta Neuropathologica VO 139 IS 3 SP 415 OP 442 LK http://dx.doi.org/https://doi.org/10.1007/s00401-019-02109-6 DO https://doi.org/10.1007/s00401-019-02109-6 SF ELIB - SuUB Bremen
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