Gadolinium Brain Deposition after Macrocyclic Gadolinium Administration: A Pediatric Case-Control Study von Tibussek, Daniel, Rademacher, Christin, Caspers, Julian, Turowski, Bernd, Schaper, Jörg, Antoch, Gerald, Klee, Dirk

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Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration von Holzerova, Eliska, Danhauser, Katharina, Haack, Tobias B, Kremer, Laura S, Melcher, Marlen, Ingold, Irina, Kobayashi, Sho, Terrile, Caterina, Wolf, Petra, Schaper, Jörg, Mayatepek, Ertan, Baertling, Fabian, Friedmann Angeli, José Pedro, Conrad, Marcus, Strom, Tim M, Meitinger, Thomas, Prokisch, Holger, Distelmaier, Felix

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Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects von Filatova, Alina, Rey, Linda K., Lechler, Marion B., Schaper, Jörg, Hempel, Maja, Posmyk, Renata, Szczaluba, Krzysztof, Santen, Gijs W. E., Wieczorek, Dagmar, Nuber, Ulrike A.

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QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum von Föhrenbach, Melanie, Jamra, Rami Abou, Borkhardt, Arndt, Brozou, Triantafyllia, Muschke, Petra, Popp, Bernt, Rey, Linda K., Schaper, Jörg, Surowy, Harald, Zenker, Martin, Zweier, Christiane, Wieczorek, Dagmar, Redler, Silke

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Regional deep hyperthermia for salvage treatment of children and adolescents with refractory or recurrent non-testicular malignant germ-cell tumours: an open-label, non-randomised,... von Wessalowski, Rüdiger, Dr, Schneider, Dominik T, Prof, Mils, Oliver, Friemann, Verena, MD, Kyrillopoulou, Olga, Schaper, Jörg, MD, Matuschek, Christiane, MD, Rothe, Karin, Prof, Leuschner, Ivo, Prof, Willers, Reinhart, PhD, Schönberger, Stefan, MD, Göbel, Ulrich, Prof, Calaminus, Gabriele, MD

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The Growing Spectrum of DADA2 Manifestations—Diagnostic and Therapeutic Challenges Revisited von Escherich, Carolin, Bötticher, Benedikt, Harmsen, Stefani, Hömberg, Marc, Schaper, Jörg, Lorenz, Myriam Ricarda, Schwarz, Klaus, Borkhardt, Arndt, Oommen, Prasad Thomas

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De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly von Kuhlen, Michaela, Hönscheid, Andrea, Loizou, Loizos, Nabhani, Schafiq, Fischer, Ute, Stepensky, Polina, Schaper, Jörg, Klapper, Wolfram, Siepermann, Meinolf, Schuster, Friedhelm, Meisel, Roland, Borkhardt, Arndt

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A guide to diagnosis and treatment of Leigh syndrome von Baertling, Fabian, Rodenburg, Richard J, Schaper, Jörg, Smeitink, Jan A, Koopman, Werner J H, Mayatepek, Ertan, Morava, Eva, Distelmaier, Felix

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SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes von Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek, Vissers, Lisenka E.L.M., Lemaire, Mathieu, Ahn, Eun-Young Erin

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Fanconi Syndrome Caused by Antiepileptic Therapy with Valproic Acid von Knorr, Martin, Schaper, Jörg, Harjes, Malte, Mayatepek, Ertan, Rosenbaum, Thorsten

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The many faces of paediatric mitochondrial disease on neuroimaging von Baertling, Fabian, Klee, Dirk, Haack, Tobias B., Prokisch, Holger, Meitinger, Thomas, Mayatepek, Ertan, Schaper, Jörg, Distelmaier, Felix

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Lymphnode tuberculosis in a 4-year-old boy with relapsed ganglioneuroblastoma: a case report von van de Loo, Karoline, Balzer, Stefan, MacKenzie, Colin R, Boemers, Thomas M, Ortmann, Monika, Schaper, Jörg, Borkhardt, Arndt, Laws, Hans-Jürgen, Kuhlen, Michaela

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Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration von Preising, Markus N., Görg, Boris, Friedburg, Christoph, Qvartskhava, Natalia, Budde, Birgit S., Bonus, Michele, Toliat, Mohammad R., Pfleger, Christopher, Altmüller, Janine, Herebian, Diran, Beyer, Mila, Zöllner, Helge J., Wittsack, Hans-Jörg, Schaper, Jörg, Klee, Dirk, Zechner, Ulrich, Nürnberg, Peter, Schipper, Jörg, Schnitzler, Alfons, Gohlke, Holger, Lorenz, Birgit, Häussinger, Dieter, Bolz, Hanno J.

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Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID von Redler, Silke, Strom, Tim M, Wieland, Thomas, Cremer, Kirsten, Engels, Hartmut, Distelmaier, Felix, Schaper, Jörg, Küchler, Alma, Lemke, Johannes R, Jeschke, Stephanie, Schreyer, Nicole, Sticht, Heinrich, Koch, Margarete, Lüdecke, Hermann-Josef, Wieczorek, Dagmar

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Splenic infarction in a patient hereditary spherocytosis, protein C deficiency and acute infectious mononucleosis von Breuer, Christian, Janssen, Gisela, Laws, Hans-Jürgen, Schaper, Jörg, Mayatepek, Ertan, Schroten, Horst, Tenenbaum, Tobias

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Lesions in Congenital Nephrotic Syndrome von Horsch, Sandra, MD, Schaper, Jörg, MD, Roll, Claudia, PhD

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A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative... von Nabhani, Schafiq, Hönscheid, Andrea, Oommen, Prasad T, Fleckenstein, Bernhard, Schaper, Jörg, Kuhlen, Michaela, Laws, Hans-Jürgen, Borkhardt, Arndt, Fischer, Ute

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Teaching NeuroImages: Rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency von Baertling, Fabian, Schaper, Jörg, Mayatepek, Ertan, Distelmaier, Felix

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Microbial communities related to volatile organic compound emission in automobile air conditioning units von Diekmann, Nina, Burghartz, Melanie, Remus, Lars, Kaufholz, Anna-Lena, Nawrath, Thorben, Rohde, Manfred, Schulz, Stefan, Roselius, Louisa, Schaper, Jörg, Mamber, Oliver, Jahn, Dieter, Jahn, Martina

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Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement von Le Duc, Diana, Horn, Susanne, Jamra, Rami Abou, Schaper, Jörg, Wieczorek, Dagmar, Redler, Silke

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