Výsledky vyhledávání - Afshin Saffari

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  1. 1
    The evolving spectrum of<i>PRRT2</i>-associated paroxysmal diseases

    The evolving spectrum of<i>PRRT2</i>-associated paroxysmal diseases Autor Darius Ebrahimi‐Fakhari, Afshin Saffari, Ana Westenberger, Christine Klein

    Vydáno 2015
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  2. 2
    Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

    Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism Autor Darius Ebrahimi‐Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F. Hoffmann, Heinz Jungbluth, Mustafa Şahin

    Vydáno 2015
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  3. 3
    Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

    Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex Autor Ebru Ercan, Juliette M. Han, Alessia Di Nardo, Kellen D. Winden, Min‐Joon Han, Leonie Hoyo, Afshin Saffari, Andrew Leask, Daniel H. Geschwind, Mustafa Şahin

    Vydáno 2017
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  4. 4
    Cerebrospinal fluid proteomic profiling in nusinersen‐treated patients with spinal muscular atrophy

    Cerebrospinal fluid proteomic profiling in nusinersen‐treated patients with spinal muscular atrophy Autor Tobias Keßler, Pauline Latzer, Dominic Schmid, Uwe Warnken, Afshin Saffari, Andreas Ziegler, Jennifer Kollmer, Markus Möhlenbruch, Christian Ulfert, Christian Herweh, Brigitte Wildemann, Wolfgang Wick, Markus Weiler

    Vydáno 2020
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  5. 5
    Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

    Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex Autor Darius Ebrahimi‐Fakhari, Afshin Saffari, Lara Wahlster, Alessia Di Nardo, Daria Turner, Tommy L. Lewis, Christopher Conrad, Jonathan M. Rothberg, Jonathan O. Lipton, Stefan Kölker, Georg F. Hoffmann, Min‐Joon Han, Franck Polleux, Mustafa Şahin

    Vydáno 2016
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  6. 6
    High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

    High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia Autor Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E. Alecu, M. L. ZIEGLER, Marlene Scheffold, Kellen D. Winden, Jed L. Hubbs, Elizabeth D. Buttermore, Lee Barrett, Georg H. H. Borner, Alexandra K. Davies, Darius Ebrahimi‐Fakhari, Mustafa Şahin

    Vydáno 2024
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  7. 7
    Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

    Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study Autor Afshin Saffari, Ines Brösse, Adelheid Wiemer‐Kruel, Bernd Wilken, Paula Kreuzaler, Andreas Hahn, Matthias K. Bernhard, Cornelis M. van Tilburg, Georg F. Hoffmann, Matthias Gorenflo, Sven Hethey, Olaf Kaiser, Stefan Kölker, Robert Wágner, Olaf Witt, Andreas Merkenschlager, A Möckel, Timo Roser, Jan-Ulrich Schlump, Antje Serfling, Juliane Spiegler, Till Milde, Andreas Ziegler, Steffen Syrbe

    Vydáno 2019
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  8. 8
    p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis

    p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis Autor Hilaire C. Lam, Christian V. Baglini, Alicia Llorente Lope, Andrey A. Parkhitko, Heng-Jia Liu, Nicola Alesi, Izabela A. Malinowska, Darius Ebrahimi‐Fakhari, Afshin Saffari, Jane Yu, Ana Marta Pereira, Damir Khabibullin, Barbara Ogórek, Julie Nijmeh, Taylor Kavanagh, Adam Handen, Stephen Y. Chan, John M. Asara, William M. Oldham, María T. Diaz‐Meco, Jorge Moscat, Mustafa Şahin, Carmen Priolo, Elizabeth P. Henske

    Vydáno 2017
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  9. 9
    Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol

    Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized,... Autor Jan H. Driedger, Julian Schröter, Christoph Hertzberg, Bernhard Weschke, Angela M. Kaindl, Thomas Lücke, Charlotte Thiels, Kerstin Alexandra Klotz, Walid Fazeli, Charlotte Thiels, Lucia Wiethoff-Ubrig, Olaf Kaiser, Regina Trollmann, Dilbar Mammadova, Susanne Schubert‐Bast, Alexia Bach, Matthias Eckenweiler, Jan Schönberger, Kyriakos Martakis, Andreas Hahn, Knut Brockmann, Steffi Dreha‐Kulaczewski, Deike Weiss, Jonas Denecke, Hiltrud Muhle, Maria Arélin, Andreas Merkenschlager, Ingo Borggräfe, Timo Roser, Daniel Ebrahimi‐Fakhari, Barbara Fiedler, Jan-Ulrich Schlump, Ilka Köster, Christoph Korenke, Michael Alber, Susanne Ruf, Martha Feucht, Theresa O. Scholl, Steffen Syrbe, Afshin Saffari

    Vydáno 2025
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  10. 10
    Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

    Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia Autor Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D’Amore, Kathrin Eberhardt, Barbara Brechmann, M. L. ZIEGLER, Dana M. Jensen, Premsai Nagabhyrava, Gregory Geisel, Erin Carmody, Uzma Shamshad, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Daniel Ebrahimi‐Fakhari, Toni S. Pearson, Afshin Saffari, Andreas Ziegler, Stefan Kölker, Jens Volkmann, Antje Wiesener, David Bearden, Shenela Lakhani, Devorah Segal, Anaita Hegde, Andrea Martinuzzi, Jennifer Hirst, Seth J. Perlman, Yoshihisa Takiyama, Georgia Xiromerisiou, Katharina Vill, William O. Walker, Anju Shukla, Rachana Dubey Gupta, Niklas Dahl, Ayşe Aksoy, Hélène Verhelst, Mauricio R. Delgado, Radka Kremlíková Pourová, Abdelrahim A. Sadek, Nour Elkhateeb, Lubov Blumkin, Alejandro Brea‐Fernández, David Dacruz-Álvarez, Thomas Smol, Jamal Ghoumid, Diego Miguel, Constanze Heine, Jan-Ulrich Schlump, Hendrik Langen, Jonathan Baets, Saskia Bulk, Hossein Darvish, Somayeh Bakhtiari, Michael C. Kruer, Elizabeth Lim-Melia, Nur Aydınli̇, Yasemin Alanay, Omnia Fathy El-Rashidy, Sheela Nampoothiri, Chirag Patel, Christian Beetz, Peter Bauer, Grace Yoon, M Guillot, Steven P. Miller, Thomas Bourinaris, Henry Houlden, Laura Robelin, Mathieu Anheim, Abdullah Alamri, Adel Mahmoud, Soroor Inaloo, Parham Habibzadeh, Mohammad Ali Faghihi, Anna Jansen, Stefanie Brock, Agathe Roubertie, Basil T. Darras, Pankaj B. Agrawal, Filippo M. Santorelli, Joseph G. Gleeson, Maha S. Zaki, Sarah Sheikh, James T. Bennett, Mustafa Şahin

    Vydáno 2019
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