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1. Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

Ridout, Deborah, Muntoni, Francesco, Manzur, Adnan., Quinlivan, Rosaline, Baranello, Giovanni, Main, Marion, Abbott, Lianne, Burnett, Nicola, Rohwer, Anne-Marie, Milev, Evelin, Wolfe, Adrian, O'Reilly, Emer, Straub, Volker, Guglieri, Michela, Bettolo, Chiara, Muni-Lofra, Robert, James, Meredith, Sodhi, Jassi, Willis, Tracey, Wright, Elizabeth, Rylance, Claire, Birchall, Nicola, Childs, Anne-Marie, Pysden, Karen, Martos-Lozano, Cristina, Pallant, Lindsey, Wadsworth, Steph, Spinty, Stefan, Madhu, Rajesh, Karuvattil, Rajesh, Gregson, Sarah, Clark, Stuart, Wraige, Elizabeth, Jungbluth, Heinz, Gowda, Vasantha, Vanegas, Maria, Sheehan, Ennie, Wolfe, Amy, Schofield, Alex, Hughes, Imelda, McCullagh, Gary, Whitehouse, Emily, Varma, Uma., Warner, Sinead, Reading, Emily, Benson, Lucy., Moustoukas, Jenny, Strachan, Kate, Emery, Nicholas, Ong, Min, Atherton, Mark, Durso, Sarah, White, Kay, Hinde, Neil, Skone, Kate, Sanchez Marco, Silvia, Saxena, Anurag, Gibbon, Frances, TeWaterNaude, Johann, Davis, Hayley, Thompson, Laura, Majumdar, Anirban, Murugan, Archana, Lynch, Mollie, Milton, Emily, Guarino, Iolanda, Tomlinson, Richard, Jarvis, Heather, Berry, Jane, Wills, Lucy, Frimpong-Ansah, Claire, Watson, Jackie, Robertson, Gemma, Cobb, Gavin, Burslem, Julie, Horrocks, Iain, Wong, Jarod, Brunklaus, Andreas, DiMarco, Marina, Brown, Sarah, Mckenzie, Susanne, Torne, Krupa, Mohamed, Rana, Velmurugan, Vel, Prasad, Manish, Sedehizadeh, Saam, Williamson, Sarah, Fenty, Paula, Degoede, Christian, Parkes, Amy, Illingworth, Marjorie, Bhangu, Neeraj, Geary, Michelle, Palmer, Jenni, Shill, Catherine, White, Cathy, Greenfield, Kathryn, Tomos, Heledd, Gates, Sarah, Tirupathi, Sandya, Shah, Ayaz, O'Donoghue, Dara, McVeigh, Janine, McFetridge, Jaci, Nic Fhirleinn, Grainne, Hussain, Nahin, Baskaran, Dhinesh, Lambat, Zubeida, Ambegaonkar, Gautam, Krishnakumar, Deepa, Taylor, Jacqui, Moores, Jo, Stephen, Elma, Tewnion, Jane, Ramdas, Sithara, Sa, Mario, Servais, Laurent, Lilien, Charlotte, Ramjattan, Hayley, Taylor, Francesca, English, Hayley, Parasuraman, Deepak, Rabb, Rosanna, McMurchie, Heather, Henzi, Bettina C, Schmidt, Simone, Nagy, Sara, Rubino-Nacht, Daniela, Schaedelin, Sabine, Putananickal, Niveditha, Stimpson, Georgia, Amthor, Helge, Deconinck, Nicolas, de Groot, Imelda, Houwen-van Opstal, Saskia, Laugel, Vincent, Lopez Lobato, Mercedes, Madruga Garrido, Marcos, Nascimento Osorio, Andrés, Schara-Schmidt, Ulrike, von Moers, Arpad, Lawrence, Fiona, Hafner, Patricia, Dorchies, Olivier M, and Fischer, Dirk

Published
2023
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2. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

Author

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., Bertsche, Astrid, Vill, Katharina, Baumann, Matthias, Baumgartner, Manuela, Cordts, Isabell, Eisenkölbl, Astrid, Flotats-Bastardas, Marina, Friese, Johannes, Günther, René, Hahn, Andreas, Horber, Veronka, Husain, Ralf A., Illsinger, Sabine, Jahnel, Jörg, Johannsen, Jessika, Köhler, Cornelia, Kölbel, Heike, Müller, Monika, von Moers, Arpad, Schwerin-Nagel, Annette, Reihle, Christof, Schlachter, Kurt, Schreiber, Gudrun, Schwartz, Oliver, Smitka, Martin, Steiner, Elisabeth, Trollmann, Regina, Weiler, Markus, Weiß, Claudia, Wiegand, Gert, Wilichowski, Ekkehard, Ziegler, Andreas, Lochmüller, Hanns, and Kirschner, Janbernd

Published
2022
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3. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

Author

Schwartz, Oliver, Vill, Katharina, Pfaffenlehner, Michelle, Behrens, Max, Weiß, Claudia, Johannsen, Jessika, Friese, Johannes, Hahn, Andreas, Ziegler, Andreas, Illsinger, Sabine, Smitka, Martin, von Moers, Arpad, Kölbel, Heike, Schreiber, Gudrun, Kaiser, Nadja, Wilichowski, Ekkehard, Flotats-Bastardas, Marina, Husain, Ralf A., Baumann, Matthias, and Köhler, Cornelia

Published
2024
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4. Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

Henzi, Bettina C, primary, Schmidt, Simone, additional, Nagy, Sara, additional, Rubino-Nacht, Daniela, additional, Schaedelin, Sabine, additional, Putananickal, Niveditha, additional, Stimpson, Georgia, additional, Amthor, Helge, additional, Childs, Anne-Marie, additional, Deconinck, Nicolas, additional, de Groot, Imelda, additional, Horrocks, Iain, additional, Houwen-van Opstal, Saskia, additional, Laugel, Vincent, additional, Lopez Lobato, Mercedes, additional, Madruga Garrido, Marcos, additional, Nascimento Osorio, Andrés, additional, Schara-Schmidt, Ulrike, additional, Spinty, Stefan, additional, von Moers, Arpad, additional, Lawrence, Fiona, additional, Hafner, Patricia, additional, Dorchies, Olivier M, additional, Fischer, Dirk, additional, Ridout, Deborah, additional, Muntoni, Francesco, additional, Manzur, Adnan., additional, Quinlivan, Rosaline, additional, Baranello, Giovanni, additional, Main, Marion, additional, Abbott, Lianne, additional, Burnett, Nicola, additional, Rohwer, Anne-Marie, additional, Milev, Evelin, additional, Wolfe, Adrian, additional, .O'Reilly, Emer, additional, Straub, Volker, additional, Guglieri, Michela, additional, Bettolo, Chiara, additional, Muni-Lofra, Robert, additional, James, Meredith, additional, Sodhi, Jassi, additional, Willis, Tracey, additional, Wright, Elizabeth, additional, Rylance, Claire, additional, Birchall, Nicola, additional, Pysden, Karen, additional, Martos-Lozano, Cristina, additional, Pallant, Lindsey, additional, Wadsworth, Steph, additional, Madhu, Rajesh, additional, Karuvattil, Rajesh, additional, Gregson, Sarah, additional, Clark, Stuart, additional, Wraige, Elizabeth, additional, Jungbluth, Heinz, additional, Gowda, Vasantha, additional, Vanegas, Maria, additional, Sheehan, Ennie, additional, Wolfe, Amy, additional, Schofield, Alex, additional, Hughes, Imelda, additional, McCullagh, Gary, additional, Whitehouse, Emily, additional, Varma, Uma., additional, Warner, Sinead, additional, Reading, Emily, additional, Benson, Lucy., additional, Moustoukas, Jenny, additional, Strachan, Kate, additional, Emery, Nicholas, additional, Ong, Min, additional, Atherton, Mark, additional, Durso, Sarah, additional, White, Kay, additional, Hinde, Neil, additional, Skone, Kate, additional, Sanchez Marco, Silvia, additional, Saxena, Anurag, additional, Gibbon, Frances, additional, TeWaterNaude, Johann, additional, Davis, Hayley, additional, Thompson, Laura, additional, Majumdar, Anirban, additional, Murugan, Archana, additional, Lynch, Mollie, additional, Milton, Emily, additional, Guarino, Iolanda, additional, Tomlinson, Richard, additional, Jarvis, Heather, additional, Berry, Jane, additional, Wills, Lucy, additional, Frimpong-Ansah, Claire, additional, Watson, Jackie, additional, Robertson, Gemma, additional, Cobb, Gavin, additional, Burslem, Julie, additional, Wong, Jarod, additional, Brunklaus, Andreas, additional, DiMarco, Marina, additional, Brown, Sarah, additional, Mckenzie, Susanne, additional, Torne, Krupa, additional, Mohamed, Rana, additional, Velmurugan, Vel, additional, Prasad, Manish, additional, Sedehizadeh, Saam, additional, Williamson, Sarah, additional, Fenty, Paula, additional, Degoede, Christian, additional, Parkes, Amy, additional, Illingworth, Marjorie, additional, Bhangu, Neeraj, additional, Geary, Michelle, additional, Palmer, Jenni, additional, Shill, Catherine, additional, White, Cathy, additional, Greenfield, Kathryn, additional, Tomos, Heledd, additional, Gates, Sarah, additional, Tirupathi, Sandya, additional, Shah, Ayaz, additional, O'Donoghue, Dara, additional, McVeigh, Janine, additional, .McFetridge, Jaci, additional, Nic Fhirleinn, Grainne, additional, Hussain, Nahin, additional, Baskaran, Dhinesh, additional, Lambat, Zubeida, additional, Ambegaonkar, Gautam, additional, Krishnakumar, Deepa, additional, Taylor, Jacqui, additional, Moores, Jo, additional, Stephen, Elma, additional, Tewnion, Jane, additional, Ramdas, Sithara, additional, Sa, Mario, additional, Servais, Laurent, additional, Lilien, Charlotte, additional, Ramjattan, Hayley, additional, Taylor, Francesca, additional, English, Hayley, additional, Parasuraman, Deepak, additional, Rabb, Rosanna, additional, and McMurchie, Heather, additional

Published
2023
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5. Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101: Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V.

Author

Ziegler, Andreas, Wilichowski, Ekkehard, Schara, Ulrike, Hahn, Andreas, Müller-Felber, Wolfgang, Johannsen, Jessika, von der Hagen, Maja, von Moers, Arpad, Stoltenburg, Corinna, Saffari, Afshin, Walter, Maggie C., Husain, Ralf A., Pechmann, Astrid, Köhler, Cornelia, Horber, Veronka, Schwartz, Oliver, and Kirschner, Janbernd

Published
2020
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6. Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

Author

Kleinle, Stephanie, primary, Scholz, Veronika, additional, Benet-Pagés, Anna, additional, Wohlfrom, Tobias, additional, Gehling, Stefanie, additional, Scharf, Florentine, additional, Rost, Simone, additional, Prott, Eva-Christina, additional, Grinzinger, Susanne, additional, Hotter, Anna, additional, Haug, Verena, additional, Niemeier, Sabine, additional, Wiethoff-Ubrig, Lucia, additional, Hagenacker, Tim, additional, Goldhahn, Klaus, additional, von Moers, Arpad, additional, Walter, Maggie C., additional, Reilich, Peter, additional, Eggermann, Katja, additional, Kraft, Florian, additional, Kurth, Ingo, additional, Erdmann, Hannes, additional, Holinski-Feder, Elke, additional, Neuhann, Teresa, additional, and Abicht, Angela, additional

Published
2023
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10. Adressen

Author

Bernhard, Matthias K., primary, Blank, Rainer, additional, Dulz, Simon, additional, Ebinger, Friedrich, additional, Ebinger, Martin, additional, Friedrich, Reinhard E., additional, Frölich, Jan, additional, Gärtner, Jutta, additional, Hagel, Christian, additional, Häusler, Martin, additional, Hömberg, Volker, additional, Hornung, Dagmar, additional, Jorch, Gerhard, additional, Jaite, Charlotte, additional, Jung, Nikolai, additional, Kammler, Gertrud, additional, Klein, Christine, additional, Kohlschütter, Alfried, additional, Kordes, Uwe, additional, Korinthenberg, Rudolf, additional, Krägeloh-Mann, Ingeborg, additional, Krause, Matthias, additional, Kunde-Trommer, Jutta, additional, Lehmkuhl, Gerd, additional, Lehmkuhl, Ulrike, additional, Linhart, Dieter, additional, Löbel, Ulrike, additional, Mall, Volker, additional, Mautner, Victor-Felix, additional, Mehlan, Juliane, additional, Merkenschlager, Andreas, additional, von Moers, Arpad, additional, Müller, Kristina, additional, Müller-Felber, Wolfgang, additional, Münchau, Alexander, additional, Müther, Silvia, additional, Muschol, Nicole, additional, Nestler, Ulf, additional, Omran, Heymut, additional, Panteliadis, Christos P., additional, Ramantani, Georgia, additional, Roessner, Veit, additional, Röhling, Dagmar, additional, Rosenbaum, Thorsten, additional, Rothenberger, Aribert, additional, Rudolf, Jobst, additional, Rutkowski, Stefan, additional, Rutz, Erich, additional, Salbach, Harriet, additional, Schlößer, Rolf L., additional, Schneider, Markus, additional, Schneider, Susanne A., additional, Schöls, Ludger, additional, Schönweiler, Rainer, additional, Schüller, Ulrich, additional, Sinzig, Judith, additional, Schüttauf, Frank, additional, Spiekerkötter, Ute, additional, Spitzer, Martin, additional, Steinfeld, Robert, additional, Stephani, Ulrich, additional, von Suchodoletz, Waldemar, additional, Synofzik, Matthis, additional, Thiel, Christian, additional, Tischler, Tanja, additional, Trinka, Eugen, additional, Unterberger, Iris, additional, Velthoven, Vera van, additional, and Wilichowski, Ekkehard, additional

Published
2020
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11. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Author

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, and Jen, Joanna C

Subjects
Biological Sciences, Genetics, Clinical Research, Pediatric, Neurosciences, Neurodegenerative, Neurological, Animals, Cerebellum, Exosome Multienzyme Ribonuclease Complex, Exosomes, Gene Knockdown Techniques, Humans, Motor Neurons, Nerve Degeneration, Olivopontocerebellar Atrophies, Pons, RNA, RNA-Binding Proteins, Spinal Nerves, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

RNA exosomes are multi-subunit complexes conserved throughout evolution and are emerging as the major cellular machinery for processing, surveillance and turnover of a diverse spectrum of coding and noncoding RNA substrates essential for viability. By exome sequencing, we discovered recessive mutations in EXOSC3 (encoding exosome component 3) in four siblings with infantile spinal motor neuron disease, cerebellar atrophy, progressive microcephaly and profound global developmental delay, consistent with pontocerebellar hypoplasia type 1 (PCH1; MIM 607596). We identified mutations in EXOSC3 in an additional 8 of 12 families with PCH1. Morpholino knockdown of exosc3 in zebrafish embryos caused embryonic maldevelopment, resulting in small brain size and poor motility, reminiscent of human clinical features, and these defects were largely rescued by co-injection with wild-type but not mutant exosc3 mRNA. These findings represent the first example of an RNA exosome core component gene that is responsible for a human disease and further implicate dysregulation of RNA processing in cerebellar and spinal motor neuron maldevelopment and degeneration.

Published
2012

12. Transition Toolkits

Author

von Moers, Arpad, Chessa, Massimo, Series editor, Baumgartner, Helmut, Series editor, Eicken, Andreas, Series editor, Giamberti, Alessandro, Series editor, Schwerzmann, Markus, editor, Thomet, Corina, editor, and Moons, Philip, editor

Published
2016
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13. Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany

Author

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

Published
2023
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14. Improvements in Walking Distance during Nusinersen Treatment : A Prospective 3-year SMArtCARE Registry Study

Author

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, and Kirschner, Janbernd

Subjects
Neurology, Medizin, Neurology (clinical), ddc:610
Abstract

Background and objectives: Disease progression in patients with spinal muscular atrophy (SMA) has changed dramatically within the past years due to the approval of three different disease-modifying treatments. Nusinersen was the first drug to be approved for the treatment of SMA patients. Clinical trials provided data from infants with SMA type 1 and children with SMA type 2, but there is still insufficient evidence and only scarcely reported long-term experience for nusinersen treatment in ambulant patients. Here, we report data from the SMArtCARE registry of ambulant patients under nusinersen treatment with a follow-up period of up to 38 months. Methods: SMArtCARE is a disease-specific registry in Germany, Austria and Switzerland. Data are collected as real-world data during routine patient visits. Our analysis included all patients under treatment with nusinersen able to walk independently before start of treatment with focus on changes in motor function. Results: Data from 231 ambulant patients were included in the analysis. During the observation period, 31 pediatric walkers (27.2%) and 31 adult walkers (26.5%) experienced a clinically meaningful improvement of≥30 m in the 6-Minute-Walk-Test. In contrast, only five adult walkers (7.7%) showed a decline in walking distance≥30 m, and two pediatric walkers (1.8%) lost the ability to walk unassisted under treatment with nusinersen. HFMSE and RULM scores improved in pediatric and remained stable in adult patients. Conclusion: Our data demonstrate a positive effect of nusinersen treatment in most ambulant pediatric and adult SMA patients. We not only observed a stabilization of disease progression or lack of deterioration, but clinically meaningful improvements in walking distance.

Published
2023

15. Corrigendum: Specifically increased rate of infections in children post measles in a high resource setting

Author

Bühl, Daniel, primary, Staudacher, Olga, additional, Santibanez, Sabine, additional, Rossi, Rainer, additional, Girschick, Hermann, additional, Stephan, Volker, additional, Schmidt, Beatrix, additional, Hundsdoerfer, Patrick, additional, von Moers, Arpad, additional, Lange, Michael, additional, Barker, Michael, additional, Mall, Marcus A., additional, Heininger, Ulrich, additional, Matysiak-Klose, Dorothea, additional, Mankertz, Annette, additional, and von Bernuth, Horst, additional

Published
2022
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16. Specifically Increased Rate of Infections in Children Post Measles in a High Resource Setting

Author

Bühl, Daniel, primary, Staudacher, Olga, additional, Santibanez, Sabine, additional, Rossi, Rainer, additional, Girschick, Hermann, additional, Stephan, Volker, additional, Schmidt, Beatrix, additional, Hundsdoerfer, Patrick, additional, von Moers, Arpad, additional, Lange, Michael, additional, Barker, Michael, additional, Mall, Marcus A., additional, Heininger, Ulrich, additional, Matysiak-Klose, Dorothea, additional, Mankertz, Annette, additional, and von Bernuth, Horst, additional

Published
2022
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17. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy

Author

Schorling, David C., Kölbel, Heike, Hentschel, Andreas, Pechmann, Astrid, Meyer, Nancy, Wirth, Brunhilde, Rombo, Roman, Sickmann, Albert, Kirschner, Janbernd, Schara‐Schmidt, Ulrike, Lochmüller, Hanns, Roos, Andreas, Abele, Thea Beatrice, Andres, Barbara, Angelova‐Toshkina, Daniela, Baum, Petra, Baum, Tobias, Baumann, Matthias, Baumgartner, Manuela, Baur, Ute, Becker, Benedikt, Behring, Bettina, Bernert, Günther, Birsak, Theresa, Bellut, Julia, Bertsche, Astrid, Blankenburg, Markus, Blaschek, Astrid, Braun, Nathalie, Braun, Sarah, Burgenmeister, Nadine, Claus, Nicole, Cordts, Isabell, de Vries, Heike, Deba, Timo, Marina, Adela Della, Denecke, Jonas, Deschauer, Marcus, Dörnbrack, Katharina, Driemeyer, Joenna, Eckenweiler, Matthias, Eisenkölbl, Astrid, Fiedler, Barbara, Fischer, Michal, Flotats‐Bastardas, Marina, Freigang, Maren, Friese, Johannes, Gaiser, Philippa, Gebert, Axel, Geitmann, Stephanie, Goldhahn, Klaus, Grässl, Michael, Gröning, Kristina, Grosskreutz, Julian, Gruber‐Sedlmayr, Ursula, Guillemot, Helene, Günther, René, von der Hagen, Maja, Hagenacker, Tim, Hahn, Andreas, Hartmann, Hans, Hiebeler, Miriam, Hobbiebrunken, Elke, Friedrich Hoffmann, Georg, Holtkamp, Britta, Holzwarth, Dorothea, Horber, Veronka, Husain, Ralf A., Illsinger, Sabine, Jansen, Eva, Johannsen, Jessika, Kaindl, Angela, Kaiser, Nadja, Klamroth, Jennifer, Christoph Koch, Jan, Köhler, Cornelia, Koelker, Stefan, Kolzter, Kirsten, Korschinsky, Brigitte, Küpper, Hanna, Langer, Thorsten, Lehnert, Ilka, Lingor, Paul, Löscher, Wolfgang N., LoudoviciüKrug, Dana, Martakis, Kyriakos, Mayer, Iris, Metelmann, Moritz, Meyer, Sascha, von Moers, Arpad, Mueller‐Kaempffer, Katharina, Müller, Monika, Müller, Petra, Müller‐Felber, Wolfgang, Neuwirth, Christoph, Niederschweiberer, Johanna, Nolte, Anja, Odorfer, Thorsten, Omran, Heymut, Pauschek, Josefine, Pickrodt, Katrin, Plecko, Barbara, Pühringer, Manuel, Quinten, Anna Lisa, Rappold, Mika, Reihle, Christof, Reinhardt, Tabea, Rödiger, Annekathrin, Roetmann, Gerda, Saffari, Afshin, Schimmel, Mareike, Schlachter, Kurt, Schneider, Joanna, Schoene‐Bake, Christoph, Schreiber, Gudrun, Schwartz, Oliver, Schwerin‐Nagel, Anette, Schwersenz, Inge, Smitka, Martin, Stein, Sabine, Steinbach, Robert, Steiner, Elisabeth, Steuernagel, Daniela, Stögmann, Eva, Stolte, Benjamin, Stoltenburg, Corinna, Stüve, Burkhard, Tassoni, Adrian, Theophil, Manuela, Thiele, Simone, Topakian, Raffi, Trollmann, Regina, Türk, Matthias, van der Stam, Lieske, Vill, Katharina, Vogt, Sibylle, Vollmann, Peter, Walter, Maggie C., Warken, Birgit, Weber, Markus, Weiler, Markus, Weiß, Claudia, Weiss, Deike, Weiss, Simone, Wenzel, Franziska, Wider, Sabine, Wiebe, Nils, Wiegand, Gert, Wilichowski, Ekkehard, Wilken, Bernd, Wochner, Katarzyna, Zeiner, Fiona, Zeisler, Daniela, Zeller, Daniel, Zemlin, Michael, and Ziegler, Andreas

Subjects
Adult, Proteomics, Adolescent, Oligonucleotides, Medizin, Cathepsin D, Atròfia muscular espinal -- Tractament, Muscular Atrophy, Spinal, Neurology, Humans, Neurology (clinical), Child, Biomarkers, Aged
Abstract

Data de publicació electrònica: 23-03-2022 Background and purpose: The therapeutic landscape of spinal muscular atrophy (SMA) has changed dramatically during the past 4 years, but treatment responses differ remarkably between individuals, and therapeutic decision-making remains challenging, underlining the persistent need for validated biomarkers. Methods: We applied untargeted proteomic analyses to determine biomarkers in cerebrospinal fluid (CSF) samples of SMA patients under treatment with nusinersen. Identified candidate proteins were validated in CSF samples of SMA patients by Western blot and enzyme-linked immunosorbent assay. Furthermore, levels of peripheral neurofilament heavy and light chain were determined. Results: Untargeted proteomic analysis of CSF samples of three SMA type 1 patients revealed the lysosomal protease cathepsin D as a candidate biomarker. Subsequent validation analysis in a larger cohort of 31 pediatric SMA patients (type 1, n = 12; type 2, n = 9; type 3, n = 6; presymptomatically treated, n = 4; age = 0-16 years) revealed a significant decline of cathepsin D levels in SMA patients aged ≥2 months at the start of treatment. Although evident in all older age categories, this decline was only significant in the group of patients who showed a positive motor response. Moreover, downregulation of cathepsin D was evident in muscle biopsies of SMA patients. Conclusions: We identified a decline of cathepsin D levels in CSF samples of SMA patients under nusinersen treatment that was more pronounced in the group of "treatment responders" than in "nonresponders." We believe that our results indicate a suitability of cathepsin D levels as a possible biomarker in SMA also in older patients, in combination with analysis of peripheral neurofilament light chain in adolescents or alone in adult patients. Funding: H.L. receives support from the Canadian Institutes of Health Research (Foundation Grant FDN-167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI-JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950-232279). This work was also supported by a grant of the French Muscular Dystrophy Association (AFM-Téléthon;#21466) to A.R. The work of B.W. is supported by the German Research Foundation (Wi945/17-1, SFB 1451 [project-ID 431549029–A01] and GRK1960 [project ID 233886668]), the European Research Council under the European Union's Horizon 2020 research and innovation program under the Marie Skłodowska-Curie grant agreement 956185 (SMABEYOND), and the Center for Molecular Medicine Cologne (project No C18)

Published
2022

19. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

Author

Kurian, Manju A, Li, Yan, Zhen, Juan, Meyer, Esther, Hai, Nebula, Christen, Hans-Jürgen, Hoffmann, Georg F, Jardine, Philip, von Moers, Arpad, Mordekar, Santosh R, O'Callaghan, Finbar, Wassmer, Evangeline, Wraige, Elizabeth, Dietrich, Christa, Lewis, Timothy, Hyland, Keith, Heales, Simon JR, Sanger, Terence, Gissen, Paul, Assmann, Birgit E, Reith, Maarten EA, and Maher, Eamonn R

Published
2011
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23. Neuromuscular Diseases Affect Number Representation and Processing: An Exploratory Study

Author

Schmidt, Hendrikje, Felisatti, Arianna, von Aster, Michael, Wilbert, Jürgen, von Moers, Arpad, Fischer, Martin H, Schmidt, Hendrikje, Felisatti, Arianna, von Aster, Michael, Wilbert, Jürgen, von Moers, Arpad, and Fischer, Martin H

Abstract

Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) both are rare genetic neuromuscular diseases with progressive loss of motor ability. The neuromotor developmental course of those diseases is well documented. In contrast, there is only little evidence about characteristics of general and specific cognitive development. In both conditions the final motor outcome is characterized by an inability to move autonomously: children with SMA never accomplish independent motoric exploration of their environment, while children with DMD do but later lose this ability again. These profound differences in developmental pathways might affect cognitive development of SMA vs. DMD children, as cognition is shaped by individual motor experiences. DMD patients show impaired executive functions, working memory, and verbal IQ, whereas only motor ability seems to be impaired in SMA. Advanced cognitive capacity in SMA may serve as a compensatory mechanism for achieving in education, career progression, and social satisfaction. This study aimed to relate differences in basic numerical concepts and arithmetic achievement in SMA and DMD patients to differences in their motor development and resulting sensorimotor and environmental experiences. Horizontal and vertical spatial-numerical associations were explored in SMA/DMD children ranging between 6 and 12 years through the random number generation task. Furthermore, arithmetic skills as well as general cognitive ability were assessed. Groups differed in spatial number processing as well as in arithmetic and domain-general cognitive functions. Children with SMA showed no horizontal and even reversed vertical spatial-numerical associations. Children with DMD on the other hand revealed patterns in spatial numerical associations comparable to healthy developing children. From the embodied Cognition perspective, early sensorimotor experience does play a role in development of mental number representations. However, it remains op

Published
2021

24. New mutations in the ATM gene and clinical data of 25 AT patients

Author

Demuth, Ilja, Dutrannoy, Véronique, Marques, Jr, Wilson, Neitzel, Heidemarie, Schindler, Detlev, Dimova, Petja S., Chrzanowska, Krystyna H., Bojinova, Veneta, Gregorek, Hanna, Graul-Neumann, Luitgard M., von Moers, Arpad, Schulze, Ilka, Nicke, Marion, Bora, Elcin, Cankaya, Tufan, Oláh, Éva, Kiss, Csongor, Bessenyei, Beáta, Szakszon, Katalin, Gruber-Sedlmayr, Ursula, Kroisel, Peter Michael, Sodia, Sigrun, Goecke, Timm O., Dörk, Thilo, Digweed, Martin, Sperling, Karl, de Sá, Joaquim, Lourenco, Charles Marques, and Varon, Raymonda

Published
2011
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34. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Author

Namavar, Yasmin, Barth, Peter G., Kasher, Paul R., van Ruissen, Fred, Brockmann, Knut, Bernert, Günther, Writzl, Karin, Ventura, Karen, Cheng, Edith Y., Ferriero, Donna M., Basel-Vanagaite, Lina, Eggens, Veerle R. C., Krägeloh-Mann, Ingeborg, De Meirleir, Linda, King, Mary, Graham, John M., Jr, von Moers, Arpad, Knoers, Nine, Sztriha, Laszlo, Korinthenberg, Rudolf, Consortium, PCH, Dobyns, William B., Baas, Frank, and Poll-The, Bwee Tien

Published
2011
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36. Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1

Author

Pechmann, Astrid, primary, Baumann, Matthias, additional, Bernert, Günther, additional, Flotats-Bastardas, Marina, additional, Gruber-Sedlmayr, Ursula, additional, von der Hagen, Maja, additional, Hasselmann, Oswald, additional, Hobbiebrunken, Elke, additional, Horber, Veronka, additional, Johannsen, Jessika, additional, Kellersmann, Anna, additional, Köhler, Cornelia, additional, von Moers, Arpad, additional, Müller-Felber, Wolfgang, additional, Plecko, Barbara, additional, Reihle, Christof, additional, Schlachter, Kurt, additional, Schreiber, Gudrun, additional, Schwartz, Oliver, additional, Smitka, Martin, additional, Steiner, Elisabeth, additional, Stoltenburg, Corinna, additional, Stüve, Burkhard, additional, Theophil, Manuela, additional, Weiß, Claudia, additional, Wiegand, Gert, additional, Wilichowski, Ekkehard, additional, Winter, Benedikt, additional, Wittmann, Wolfgang, additional, Schara, Ulrike, additional, and Kirschner, Janbernd, additional

Published
2020
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37. Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages.

Author

Kölbel, Heike, Preuße, Corinna, Brand, Lukas, von Moers, Arpad, Della Marina, Adela, Schuelke, Markus, Roos, Andreas, Goebel, Hans‐Hilmar, Schara‐Schmidt, Ulrike, and Stenzel, Werner

Subjects
MUSCLE regeneration, MACROPHAGES, FIBROSIS, MYOBLASTS, INFLAMMATION, MYOSITIS, SKELETAL muscle, CAPILLARIES
Abstract

Aims: Variable degrees of inflammation, necrosis, regeneration and fibrofatty replacement are part of the pathological spectrum of the dystrophic process in alpha dystroglycanopathy LGMDR9 (FKRP‐related, OMIM #607155), one of the most prevailing types of LGMDs worldwide. Inflammatory processes and their complex interplay with vascular, myogenic and mesenchymal cells may have a major impact on disease development. The purpose of our study is to describe the specific immune morphological features in muscle tissue of patients with LGMDR9 to enable a better understanding of the phenotype of muscle damage leading to disease progression. Methods: We have analysed skeletal muscle biopsies of 17 patients genetically confirmed as having LGMDR9 by histopathological and molecular techniques. Results: We identified CD206+ MHC class II+ and STAT6+ immune‐repressed macrophages dominating the endomysial infiltrate in areas of myofibre regeneration and fibrosis. Additionally, PDGFRβ+ pericytes were located around MHC class II+ activated capillaries residing in close proximity to areas of fibrosis and regenerating fibres. Expression of VEGF was found on many regenerating neonatal myosin+ fibres, myofibres and CD206+ macrophages also co‐expressed VEGF. Conclusion: Our results show characteristic immune inflammatory features in LGMDR9 and more specifically shed light on the predominant role of macrophages and their function in vascular organisation, fibrosis and myogenesis. Understanding disease‐specific immune phenomena potentially inform about possibilities for anti‐fibrotic and anti‐inflammatory therapeutic strategies, which may complement Ribitol replacement and gene therapies for LGMDR9 that may be available in the future. [ABSTRACT FROM AUTHOR]

Published
2021
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38. A comparison study of anxiety in children undergoing brain MRI vs adults undergoing brain MRI vs children undergoing an electroencephalogram

Author

Jaite, Charlotte, Kappel, Viola, Napp, Adriane, Sommer, Marcus, Diederichs, Gerd, Weschke, Bernhard, Spors, Birgit, von Moers, Arpad, Lehmkuhl, Ulrike, and Bachmann, Christian J.

Subjects
Male, Physiology, Emotions, Social Sciences, Blood Pressure, Anxiety, Adolescents, Vascular Medicine, Diagnostic Radiology, Families, Heart Rate, Medicine and Health Sciences, Psychology, Child, Children, Clinical Neurophysiology, Brain Mapping, adults brain MRI, Radiology and Imaging, Age Factors, Brain, Electroencephalography, Fear, Magnetic Resonance Imaging, Electrophysiology, Bioassays and Physiological Analysis, Brain Electrophysiology, Medicine, Female, Arousal, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit, Research Article, Adult, Adolescent, Imaging Techniques, Science, Cardiology, Neurophysiology, Psychological Stress, Neuroimaging, Research and Analysis Methods, children brain MRI, Diagnostic Medicine, Mental Health and Psychiatry, Humans, Electrophysiological Techniques, Biology and Life Sciences, electroencephalogram, Age Groups, People and Places, Population Groupings, Clinical Medicine, Neuroscience
Abstract

BackgroundMagnetic resonance imaging (MRI) of the brain in children and adolescents is a well-established method in both clinical practice and in neuroscientific research. This practice is sometimes viewed critically, as MRI scans might expose minors (e.g. through scan-associated fears) to more than the legally permissible "minimal burden". While there is evidence that a significant portion of adults undergoing brain MRI scans experience anxiety, data on anxiety in children and adolescents undergoing brain MRI scans is rare. This study therefore aimed to examine the prevalence and level of anxiety in children and adolescents who had MRI scans of the brain, and to compare the results to adults undergoing brain MRI scans, and to children and adolescents undergoing electroencephalography (EEG; which is usually regarded a "minimal burden").MethodParticipants were 57 children and adolescents who had a brain MRI scan (MRI-C; mean age 12.9 years), 28 adults who had a brain MRI scan (MRI-A; mean age 43.7 years), and 66 children and adolescents undergoing EEG (EEG-C; mean age 12.9 years). Anxiety was assessed on the subjective (situational anxiety) and on the physiological level (arousal), before and after the respective examination.ResultsMore than 98% of children and adolescents reported no or only minimal fear during the MRI scan. Both pre- and post-examination, the MRI-C and the MRI-A groups did not differ significantly with respect to situational anxiety (p = 0.262 and p = 0.374, respectively), and to physiological arousal (p = 0.050, p = 0.472). Between the MRI-C and the EEG-C group, there were also no significant differences in terms of situational anxiety (p = 0.525, p = 0.875), or physiological arousal (p = 0.535, p = 0.189). Prior MRI experience did not significantly influence subjective or physiological anxiety parameters.ConclusionsIn this study, children and adolescents undergoing a brain MRI scan did not experience significantly more anxiety than those undergoing an EEG, or adults undergoing MRI scanning. Therefore, a general exclusion of minors from MRI research studies does not appear reasonable.

Published
2019

40. Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

Author

Poretti, Andrea, Häusler, Martin, von Moers, Arpad, Baumgartner, Bastian, Zerres, Klaus, Klein, Andrea, Aiello, Chiara, Moro, Francesca, Zanni, Ginevra, Santorelli, Filippo, Huisman, Thierry, Weis, Joachim, Valente, Enza, Bertini, Enrico, Boltshauser, Eugen, Poretti, Andrea, Häusler, Martin, von Moers, Arpad, Baumgartner, Bastian, Zerres, Klaus, Klein, Andrea, Aiello, Chiara, Moro, Francesca, Zanni, Ginevra, Santorelli, Filippo, Huisman, Thierry, Weis, Joachim, Valente, Enza, Bertini, Enrico, and Boltshauser, Eugen

Abstract

Cerebellar cysts are rare findings in pediatric neuroimaging and rather characteristic for dystroglycanopathies and GPR56-related encephalopathy. We aim to report on seven children with cerebellar cysts showing absence of weakness and ruling out mutations within eight dystroglycanopathy genes and GPR56. Data about neurological and ophthalmological features, outcome, and creatine kinase values were collected from clinical histories and follow-up examinations. All MR images were qualitatively evaluated for infra- and supratentorial abnormalities. A SNP 6.0-Array was performed in three children. The POMT1, POMT2, POMGnT1, FKRP, FKTN, LARGE, ISPD, B3GALNT2, and GPR56 genes were screened in all patients by Sanger sequencing. Seven children from five families were studied. Ataxia, intellectual disability, and language impairment were found in all patients, ocular motor apraxia in five, and severe myopia in three. None of the patients had weakness, only three a minimally increased creatine kinase value. Qualitative neuroimaging evaluation showed cerebellar cysts and dysplasia in the cerebellar hemispheres and vermis in all children. Additional findings were an enlarged fourth ventricle in all children, vermian hypoplasia and brain stem morphological abnormalities in five. The SNP array showed no pathogenetic imbalances in all children evaluated. In all patients, no mutations were found in POMT1, POMT2, POMGnT1, FKRP, FKTN, LARGE, ISPD, B3GALNT2, and GPR56. The peculiar combination of the same clinical and neuroimaging findings in our patients highly suggests that this phenotype may represent a novel entity, possibly falling within the spectrum of dystroglycanopathies.

Published
2019

50. The Curse of Apneic Spells

Author

Radke, Josefine, primary, Dreesmann, Mona, additional, Radke, Michael, additional, von Moers, Arpad, additional, Abicht, Angela, additional, Stenzel, Werner, additional, and Goebel, Hans H., additional

Published
2018
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