Article

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 neuropathologica - 1 Mar 2020

Perenthaler Elena, Nikoncuk Anita, Yousefi Soheil, Berdowski Woutje M, Alsagob Maysoon, Capo Ivan, van der Linde Herma C, van den Berg Paul, Jacobs Edwin H, Putar Darija, Ghazvini Mehrnaz, Aronica Eleonora, van IJcken Wilfred F J, de Valk Walter G, Medici-van den Herik Evita, van Slegtenhorst Marjon, Brick Lauren, Kozenko Mariya, Kohler Jennefer N, Bernstein Jonathan A, Monaghan Kristin G, Begtrup Amber, Torene Rebecca, Al Futaisi Amna, Al Murshedi Fathiya, Mani Renjith, Al Azri Faisal, Kamsteeg Erik-Jan, Mojarrad Majid, Eslahi Atieh, Khazaei Zaynab, Darmiyan Fateme Massinaei, Doosti Mohammad, Karimiani Ehsan Ghayoor, Vandrovcova Jana, Zafar Faisal, Rana Nuzhat, Kandaswamy Krishna K, Hertecant Jozef, Bauer Peter, AlMuhaizea Mohammed A, Salih Mustafa A, Aldosary Mazhor, Almass Rawan, Al-Quait Laila, Qubbaj Wafa, Coskun Serdar, Alahmadi Khaled O, Hamad Muddathir H A, Alwadaee Salem, Awartani Khalid, Dababo Anas M, Almohanna Futwan, Colak Dilek, Dehghani Mohammadreza, Mehrjardi Mohammad Yahya Vahidi, Gunel Murat, Ercan-Sencicek A Gulhan, Passi Gouri Rao, Cheema Huma Arshad, Efthymiou Stephanie, Houlden Henry, Bertoli-Avella Aida M, Brooks Alice S, Retterer Kyle, Maroofian Reza, Kaya Namik, van Ham Tjakko J, Barakat Tahsin Stefan