Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder by Callista B. Harper, Grazia M.S. Mancini, Marjon van Slegtenhorst, Michael A. Cousin

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Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome. by Raffaella De Pace, Miguel Skirzewski, Markus Damme, Rafael Mattera, Jeffrey Mercurio, Arianne M Foster, Loreto Cuitino, Michal Jarnik, Victoria Hoffmann, H Douglas Morris, Tae-Un Han, Grazia M S Mancini, Andrés Buonanno, Juan S Bonifacino

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Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated by Natalia Yarovaya, Rachel Schot, Lisa Fodero, Michelle McMahon, Alexis Mahoney, Rachael Williams, Elly Verbeek, An de Bondt, Mark Hampson, Peter van der Spek, Andrew Stubbs, Colin L. Masters, Frans W. Verheijen, Grazia M.S. Mancini, Deon J. Venter

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Loss of USP18 in microglia induces white matter pathology by Marius Schwabenland, Omar Mossad, Adam G. Peres, Franziska Kessler, Feres Jose Mocayar Maron, Laura-Adela Harsan, Thomas Bienert, Dominik von Elverfeldt, Klaus-Peter Knobeloch, Ori Staszewski, Frank L. Heppner, Marije E. C. Meuwissen, Grazia M. S. Mancini, Marco Prinz, Thomas Blank

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Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy by Pierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, Xavier Zanlonghi, Hélène Dollfus, Alberta A. H. J. Thiadens, Christina Zeitz, Grazia M. S. Mancini, Yaumara Perdomo, Saddek Mohand-Saïd, Eléonore Lizé, Vincent Lhussiez, Emeline F. Nandrot, Niyazi Acar, Catherine Creuzot-Garcher, José-Alain Sahel, Muhammad Ansar, Christel Thauvin-Robinet, Laurence Duplomb, Romain Da Costa

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Human mutations in integrator complex subunits link transcriptome integrity to brain development. by Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini

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