Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

بواسطة Sofou, Kalliopi, Kollberg, Gittan, Holmström, Maria, Dávila, Marcela, Darin, Niklas, Gustafsson, Claes M, Holme, Elisabeth, Oldfors, Anders, Tulinius, Már, Asin-Cayuela, Jorge
الحاوية / القاعدة Mol Genet Genomic Med (2015)

Amyloid precursor protein expression and processing are differentially regulated during cortical neuron differentiation

بواسطة Bergström, Petra, Agholme, Lotta, Nazir, Faisal Hayat, Satir, Tugce Munise, Toombs, Jamie, Wellington, Henrietta, Strandberg, Joakim, Bontell, Thomas Olsson, Kvartsberg, Hlin, Holmström, Maria, Boreström, Cecilia, Simonsson, Stina, Kunath, Tilo, Lindahl, Anders, Blennow, Kaj, Hanse, Eric, Portelius, Erik, Wray, Selina, Zetterberg, Henrik
الحاوية / القاعدة Sci Rep (2016)