HaNDL Syndrome with Fever in a 12‐Year‐Old Boy – A Case Report von Berthold, Oliver, Theophil, Manuela, von Moers, Arpad

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Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis von Kleefeld, Felix, Hentschel, Andreas, Moers, Arpad, Hahn, Katrin, Horvath, Rita, Goebel, Hans‐Hilmar, Preusse, Corinna, Schallner, Jens, Schuelke, Markus, Roos, Andreas, Stenzel, Werner

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Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages von Kölbel, Heike, Preuße, Corinna, Brand, Lukas, Moers, Arpad, Della Marina, Adela, Schuelke, Markus, Roos, Andreas, Goebel, Hans‐Hilmar, Schara‐Schmidt, Ulrike, Stenzel, Werner

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Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls von Pluta, Natalie, von Moers, Arpad, Pechmann, Astrid, Stenzel, Werner, Goebel, Hans-Hilmar, Atlan, David, Wolf, Beat, Nanda, Indrajit, Zaum, Ann-Kathrin, Rost, Simone

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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration von Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P, Hong, Ji Eun, Leong, Derek W, Senderek, Jan, Salman, Michael S, Chitayat, David, Seeman, Pavel, von Moers, Arpad, Graul-Neumann, Luitgard, Kornberg, Andrew J, Castro-Gago, Manuel, Sobrido, María-Jesús, Sanefuji, Masafumi, Shieh, Perry B, Salamon, Noriko, Kim, Ronald C, Vinters, Harry V, Chen, Zugen, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Jen, Joanna C

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Neuromuscular Diseases Affect Number Representation and Processing: An Exploratory Study von Schmidt, Hendrikje, Felisatti, Arianna, von Aster, Michael, Wilbert, Juergen, von Moers, Arpad, Fischer, Martin H.

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Abuse as a Cause of Childhood Fractures von Berthold, Oliver, Frericks, Bernd, John, Thilo, Clemens, Vera, Fegert, Jörg M, Moers, Arpad von

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia von NAMAVAR, Yasmin, BARTH, Peter G, BASEL-VANAGAITE, Lina, EGGENS, Veerle R. C, KRÄGELOH-MANN, Ingeborg, DE MEIRLEIR, Linda, KING, Mary, GRAHAM JR, John M, VON MOERS, Arpad, KNOERS, Nine, SZTRIHA, Laszlo, KORINTHENBERG, Rudolf, KASHER, Paul R, DOBYNS, William B, BAAS, Frank, TIEN POLL-THE, Bwee, VAN RUISSEN, Fred, BROCKMANN, Knut, BERNERT, Günther, WRITZL, Karin, VENTURA, Karen, CHENG, Edith Y, FERRIERO, Donna M

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A comparison study of anxiety in children undergoing brain MRI vs adults undergoing brain MRI vs children undergoing an electroencephalogram von Jaite, Charlotte, Kappel, Viola, Napp, Adriane, Sommer, Marcus, Diederichs, Gerd, Weschke, Bernhard, Spors, Birgit, von Moers, Arpad, Lehmkuhl, Ulrike, Bachmann, Christian J

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Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study von Kurian, Manju A, Dr, Li, Yan, PhD, Zhen, Juan, PhD, Meyer, Esther, PhD, Hai, Nebula, BSc, Christen, Hans-Jürgen, Prof, Hoffmann, Georg F, Prof, Jardine, Philip, MD, von Moers, Arpad, MD, Mordekar, Santosh R, MD, O'Callaghan, Finbar, PhD, Wassmer, Evangeline, FRCPCH, Wraige, Elizabeth, FRCPCH, Dietrich, Christa, PhD, Lewis, Timothy, FRCR, Hyland, Keith, PhD, Heales, Simon JR, Prof, Sanger, Terence, MD, Gissen, Paul, PhD, Assmann, Birgit E, MD, Reith, Maarten EA, Prof, Maher, Eamonn R, Prof

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Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neu... von Knierim, Ellen, Seelow, Dominik, Gill, Esther, von Moers, Arpad, Schuelke, Markus

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Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation von Friesema, Edith CH, Grueters, Annette, Biebermann, Heike, Krude, Heiko, von Moers, Arpad, Reeser, Maarten, Barrett, Timothy G, Mancilla, Edna E, Svensson, Johan, Kester, Monique HA, Kuiper, George GJM, Balkassmi, Sahila, Uitterlinden, André G, Koehrle, Josef, Rodien, Patrice, Halestrap, Andrew P, Visser, Theo J

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Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany von Müller-Felber, Wolfgang, Blaschek, Astrid, Schwartz, Oliver, Gläser, Dieter, Nennstiel, Uta, Brockow, Inken, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Durner, Jürgen, Eggermann, Katja, Kölbel, Heike, Müller, Christine, Hannibal, Iris, Olgemöller, Bernd, Schara, Ulrike, von Moers, Arpad, Trollmann, Regina, Johannssen, Jessika, Ziegler, Andreas, Cirak, Sebahattin, Hahn, Andreas, von der Hagen, Maja, Weiss, Claudia, Schreiber, Gudrun, Flotats-Bastardas, Marina, Hartmann, Hans, Illsinger, Sabine, Pechmann, Astrid, Horber, Veronka, Kirschner, Jan, Köhler, Cornelia, Winter, Benedikt, Friese, Johannes, Vill, Katharina

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Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 g... von Horn, Denise, Tönnies, Holger, Neitzel, Heidemarie, Wahl, Dagmar, Hinkel, Georg Klaus, Moers, Arpad von, Bartsch, Oliver

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Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort von Kleinle, Stephanie, Scholz, Veronika, Benet-Pagès, Anna, Wohlfrom, Tobias, Gehling, Stefanie, Scharf, Florentine, Rost, Simone, Prott, Eva-Christina, Grinzinger, Susanne, Hotter, Anna, Haug, Verena, Niemeier, Sabine, Wiethoff-Ubrig, Lucia, Hagenacker, Tim, Goldhahn, Klaus, von Moers, Arpad, Walter, Maggie C, Reilich, Peter, Eggermann, Katja, Kraft, Florian, Kurth, Ingo, Erdmann, Hannes, Holinski-Feder, Elke, Neuhann, Teresa, Abicht, Angela

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Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study von Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Wenzel, Franziska, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Walter, Maggie C, Steinbach, Meike, Blaschek, Astrid, Baumann, Matthias, Baumgartner, Manuela, Becker, Benedikt, Flotats-Bastardas, Marina, Friese, Johannes, Günther, Rene, Hahn, Andreas, Küpper, Hanna, Johannsen, Jessika, Kamm, Christoph, Koch, Jan Christoph, Köhler, Cornelia, Kölbel, Heike, Kolzter, Kirsten, von Moers, Arpad, Naegel, Steffen, Neuwirth, Christoph, Petri, Susanne, Rödiger, Annekathrin, Schimmel, Mareike, Schrank, Bertold, Schreiber, Gudrun, Smitka, Martin, Stadler, Christian, Steiner, Elisabeth, Stögmann, Eva, Trollmann, Regina, Türk, Matthias, Weiler, Markus, Stoltenburg, Corinna, Willichowsky, Ekkehard, Zeller, Daniel, Ziegler, Andreas, Lochmüller, Hanns, Kirschner, Janbernd

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Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency von Krude, Heiko, Schütz, Barbara, Biebermann, Heike, von Moers, Arpad, Schnabel, Dirk, Neitzel, Heidi, Tönnies, Holger, Weise, Dagmar, Lafferty, Antony, Schwarz, Siegfried, DeFelice, Mario, von Deimling, Andreas, van Landeghem, Frank, DiLauro, Roberto, Grüters, Annette

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An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole... von Mackenroth, Luisa, Fischer-Zirnsak, Björn, Egerer, Johannes, Hecht, Jochen, Kallinich, Tilmann, Stenzel, Werner, Spors, Birgit, von Moers, Arpad, Mundlos, Stefan, Kornak, Uwe, Gerhold, Kerstin, Horn, Denise

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Specifically Increased Rate of Infections in Children Post Measles in a High Resource Setting von Bühl, Daniel, Staudacher, Olga, Santibanez, Sabine, Rossi, Rainer, Girschick, Hermann, Stephan, Volker, Schmidt, Beatrix, Hundsdoerfer, Patrick, von Moers, Arpad, Lange, Michael, Barker, Michael, Mall, Marcus A., Heininger, Ulrich, Matysiak-Klose, Dorothea, Mankertz, Annette, von Bernuth, Horst

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Corrigendum: Specifically increased rate of infections in children post measles in a high resource setting von Bühl, Daniel, Staudacher, Olga, Santibanez, Sabine, Rossi, Rainer, Girschick, Hermann, Stephan, Volker, Schmidt, Beatrix, Hundsdoerfer, Patrick, von Moers, Arpad, Lange, Michael, Barker, Michael, Mall, Marcus A., Heininger, Ulrich, Matysiak-Klose, Dorothea, Mankertz, Annette, von Bernuth, Horst

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