Výsledky vyhledávání - Steffi Dreha‐Kulaczewski
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Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism Autor Robert Steinfeld, Marcel Grapp, R. Kraetzner, Steffi Dreha‐Kulaczewski, Gunther Helms, Peter Dechent, Ron A. Wevers, Salvatore Grosso, Jutta Gärtner
Vydáno 2009Artigo -
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Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations Autor Knut Brockmann, Steffi Dreha‐Kulaczewski, Peter Dechent, Carsten G. Bönnemann, Gunther Helms, Mårten Kyllerman, Wolfgang Brück, Jens Frahm, Kathrin Huehne, Jutta Gärtner, Bernd Rautenstrauß
Vydáno 2008Artigo -
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Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder Autor Peter Huppke, Susann Weißbach, Joseph A. Church, Rhonda E. Schnur, Martina Krusen, Steffi Dreha‐Kulaczewski, W. Nikolaus Kühn‐Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Hölger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
Vydáno 2017Artigo -
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Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease Autor Sina Kristin Stumpf, Stefan A. Berghoff, Andrea Trevisiol, Lena Spieth, Tim Düking, Lennart V. Schneider, Lennart Schlaphoff, Steffi Dreha‐Kulaczewski, Annette Bley, Dinah Burfeind, Kathrin Kusch, Mišo Mitkovski, Torben Ruhwedel, Philipp Guder, Heiko Röhse, Jonas Denecke, Jutta Gärtner, Wiebke Möbius, Klaus‐Armin Nave, Gesine Saher
Vydáno 2019Artigo -
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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 2025Artigo
Vyhledávací nástroje:
Související témata
Medicine
Internal medicine
Biology
Cerebrospinal fluid
Neuroscience
Anatomy
Anesthesia
Central nervous system
Breathing
Cardiology
Endocrinology
Engineering
Genetics
Hydrocephalus
Magnetic resonance imaging
Mechanical engineering
Metabolism
Myelin
Pathology
Psychology
Radiology
Respiration
Surgery
Ventilation (architecture)
Ventricular system
Atrophy
Axon
Bayley Scales of Infant Development
Blood–brain barrier
Cancer research