Risultati della ricerca - Jan-Ulrich Schlump

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  1. 1
    Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

    Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy di Lynne Rumping, Benjamin Büttner, Oliver Maier, Holger Rehmann, Maarten H. Lequin, Jan-Ulrich Schlump, Bernhard Schmitt, Birgit G. M. Schiebergen-Bronkhorst, Hubertus C.M.T. Prinsen, M. Losa, Ralph Fingerhut, Johannes R. Lemke, Fried Zwartkruis, Roderick H.J. Houwen, Judith Jans, Nanda M. Verhoeven‐Duif, Peter M. van Hasselt, Rami Abou Jamra

    Pubblicazione 2018
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  2. 2
    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 di 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

    Pubblicazione 2019
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  3. 3
    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,... di 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

    Pubblicazione 2025
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  4. 4
    Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome

    Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome di Eva Wendel, Helen Sophie Thonke, Annikki Bertolini, Matthias Baumann, Astrid Blaschek, Andreas Merkenschlager, Michael Karenfort, Barbara Kornek, Christian Lechner, Daniela Pohl, Martin Pritsch, Kathrin Schanda, Mareike Schimmel, Charlotte Thiels, Stephan Waltz, Gert Wiegand, Banu Anlar, Nina Barišić, Christian U. Blank, Markus Breu, Philip J. Broser, Adela Della Marina, Katharina Diepold, Matthias Eckenweiler, Astrid Eisenkölbl, Michael Freilinger, U Gruber‐Sedlmayr, Annette Hackenberg, T. Iff, Ellen Knierim, Johannes Koch, G Kutschke, Steffen Leiz, Grischa Lischetzki, Margherita Nosadini, Alexander Pschibul, Edith Reiter‐Fink, Doris Rohrbach, Michela Salandin, Stefano Sartori, Jan-Ulrich Schlump, Johannes Stoffels, Jurgis Strautmanis, Daniel Tibussek, Victoria Tüngler, N Utzig, Markus Reindl, Kevin Rostásy

    Pubblicazione 2022
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  5. 5
    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 di 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

    Pubblicazione 2019
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