Hasil Pencarian - Grazia M.S. Mancini
- Menampilkan 1 - 8 hasil dari 8
-
1
-
2
Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome. oleh 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
Diterbitkan 2018-04-01
Artikel -
3
Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated oleh 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
Diterbitkan 2005-08-01
Artikel -
4
Loss of USP18 in microglia induces white matter pathology oleh 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
Diterbitkan 2019-07-01
Artikel -
5
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy oleh 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
Diterbitkan 2021-08-01
Artikel -
6
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome oleh Daphne J. Smits, Jordy Dekker, Hannie Douben, Rachel Schot, Helen Magee, Somayeh Bakhtiari, Katrin Koehler, Angela Huebner, Markus Schuelke, Hossein Darvish, Shohreh Vosoogh, Abbas Tafakhori, Melika Jameie, Ehsan Taghiabadi, Yana Wilson, Margit Shah, Marjon A. van Slegtenhorst, Evita G. Medici-van den Herik, Tjakko J. van Ham, Michael C. Kruer, Grazia M.S. Mancini
Diterbitkan 2024-10-01
Artikel -
7
Human mutations in integrator complex subunits link transcriptome integrity to brain development. oleh 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
Diterbitkan 2017-05-01
Artikel -
8
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development. oleh 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, Debbie van den Berg, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini
Diterbitkan 2017-08-01
Artikel