Hasil Pencarian - Grazia M.S. Mancini

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  1. 1
    Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder

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

    Diterbitkan 2017-12-01
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  2. 2
    Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.

    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
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  3. 3
    Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated

    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
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  4. 4
    Loss of USP18 in microglia induces white matter pathology

    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
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  5. 5
    Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

    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
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  6. 6
    Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

    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
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  7. 7
    Human mutations in integrator complex subunits link transcriptome integrity to brain development.

    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
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  8. 8
    Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

    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
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