Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study

Authors: Baum, Petra, Baumgartner, Manuela, Bertsche, Astrid, Blankenburg, Markus, Denecke, Jonas, Deschauer, Marcus, Eckenweiler, Matthias, Geis, Tobias, Goldhahn, Klaus, Groß, Martin, Günther, René, Hagenacker, Tim, Hamelmann, Eckard, Husain, Ralf A., Kamm, Christoph, Kauffmann, Birgit, Koch, Jan Christoph, Löscher, Wolfgang, Ludolph, Albert, Martin, Pascal, Mensch, Alexander, Meyer zu Hörste, Gerd, Neuwirth, Christoph, Petri, Susanne, Pühringer, Manuel, Rathmann, Imke, Schäfer, Dorothee, Schimmel, Mareike, Schrank, Bertold, Schreiber-Katz, Olivia, Schwerin-Nagel, Anette, Smitka, Martin, Steinbach, Meike, Steiner, Elisabeth, Stoffels, Johannes, Theophil, Manuela, Topakian, Raffi, Türk, Matthias, Vorgerd, Matthias, Walter, Maggie C., Weiler, Markus, Wiegand, Gert, Wunderlich, Gilbert, Wurster, Claudia Diana, Zeller, Daniel, Metelmann, Moritz, Zeiner, Fiona, Pilshofer, Veronika, Rappold, Mika, Pauschek, Josefine, Reihle, Christof, Homma, Annette Karolin, Lingor, Paul, Henzi, Bettina, Reinhardt, Tabea, Holzwarth, Dorothea, Wittmann, Wolfgang, Kappel, Stefan, Freigang, Maren, Stolte, Benjamin, Martakis, Kyriakos, Classen, Georg, Roland-Schäfer, Doris, Steuernagel, Daniela, Hartmann, Hans, Fischer, Sophie, Wermuth, Marieke, Muhandes, Mohamad Tareq, Hotter, Anna, Uzelac, Zeljko, Naegel, Steffen, Wiethoff, Sarah, Braun, Nathalie, Bjelica, Bogdan, Kölbel, Heike, Angelova-Toshkina, Daniela, Wilken, Bernd, Osmanovic, Alma, Fiedler, Barbara, Plecko, Barbara, Tomforde, Maike, Voelkl, Thomas, von Moers, Arpad, Müller, Petra, Behring, Bettina, Güttsches, Anne, Reilich, Peter, Wick, Wolfgang, Stoltenburg, Corinna, Witzel, Simon, Bellut, Julia, Hoffmann, Georg Friedrich, Mörtlbauer, Kathrin, Ille, Alexandra, Schroth, Michael, Driemeyer, Joenna, Semmler, Luisa, Müller, Cornelia, Dörnbrack, Katharina, Zemlin, Michael, Geitmann, Stephanie, Lapp, Hanna Sophie, Brakemeier, Svenja, Gehrke, Tascha, Ntemiris, Klearchos, Kaiser, Nadja, Borowski, Sabine, Ramadan, Barbara, Hustedt, Ulf, Baum, Tobias, Schneider, Ilka, Akova-Oztürk, Esra, Vill, Katharina, Dibrani, Zylfie, Wohnrade, Camilla, Della-Marina, Adela, Jung, Lisa, Deba, Timo, Zobel, Joachim, Schallner, Jens, Kraut, Christina, Vollmann, Peter, Schüssler, Stephanie, Roeder, Melanie, Hiebeler, Miriam, Berberich, Nicole, Schneider, Joanna, Brauner, Brigitte, Kölker, Stefan, Pernegger, Elke, Gosk-Tomek, Magdalena, Braun, Sarah, Weiss, Deike, Machetanz, Gerrit, Langer, Thorsten, Saier, Christina, Baumann, Sandra, Hettrich, Sabine, Dworschak, Gabriel, Müller-Kaempffer, Katharina, Dittes, Isabelle, Thimm, Andreas, Quinten, Lisa, Albers, Kristina, Bevot, Andrea, Bretschneider, Christa, Dorst, Johannes, Kendzierski, Thomas, Hannibal, Iris, Bischofberger, Jasmin, Riesmeier, Tilman, Gangfuß, Andrea, Johann to Settel, Eva, Grässl, Michael, Fiebig, Susan, Hollerauer, Carmen, Seeber, Lea, Krahwinkler, Ina, Lange, Irene, Montagnese, Federica, Mann-Richter, Marcel, Wagner, Alexandra, Leypold, Christine, Saffari, Afshin, Anna, Elmecker, Wiesenhofer, Anna, Wendel, Eva-Maria, Steffens, Paula-Sophie, Wider, Sabine, Tassoni, Adrian, Dall, Andrea, Busch, Franziska, Zeisler, Daniela, Wessel, Maria, Lipka, Jaqueline, Hackemer, Andrea, Plugge, Loreen, Jansen, Eva, Roth, Erdmute, Schuster, Joachim, Koelsch, Anna, Warken-Madelung, Birgit, Schwippert, Michaela, Holtkamp, Britta, Köbbing, Katja, Claeys, Sander, Foerster, Sandy, Thiele, Simone, Rochau-Trumpp, Heidi, George, Annette, Niesert, Moritz, Neimair, Tanja, Vettori, Katia, Haverkamp, Julia, Taherpour, Jila, Hug, Juliane, Wenzel, Franziska, Bant, Christina, Baur, Ute, Bühner, Kathrin, Schlag, Melina, Ruß, Lena, Küpper, Hanna, Müller, Anja, Wollinsky, Kurt, Well, Therese, Leinert, Antonia, Andres, Barbara, Omran, Heymut, Claus, Nicole, Hagenmeyer, Anna, Schnurr, Marion, Dukic, Vladimir, Ludolph, Albert Christian, Specht, Sabine, Angermair, Verena, Hüpper, Anna, Banholzer, Daniela, Stein, Sabine, Kampowski, Tim, Richmann, Marion, Nicolai, Sylke, Atta, Omar, Meßmer, Birgit, de Vries, Heike, Rotenfusser, Elisabeth, Oscmanovic, Alma, Renger, Isabelle, Guillemot, Hélène, Lehnert, Ilka, Grünwedel, Mike, Grimm, Laura, Stocker, Guido, Kaindl, Angela M., Hoevel, Annegret, Stadler, Theresa, Fischer, Michal, Vogt, Sibylle, Gebert, Axel, Goldbach, Susanne, Kirschner, Janbernd, Lochmüller, Hanns, Müller-Felber, Wolfgang, Pechmann, Astrid, Schara-Schmidt, Ulrike, Probst-Schendzielorz, Kristina, Lang, Annina, Nitzsche, Maren, Hammer, Julie, Müller-Kaempfer, Katharina, Wirner-Piotrowski, Corinna, van der Stam, Lieske, Bongartz, Anke, Enzmann, Cornelia, Fluss, Joël, Galiart, Elea, Jacquier, David, Metzler, Dominique Baumann, Tscherter, Anne, Weiß, Claudia, Becker, Lena-Luise, Friese, Johannes, Blaschek, Astrid, Hahn, Andreas, Illsinger, Sabine, Schwartz, Oliver, Bernert, Günther, Hagen, Maja von der, Flotats-Bastardas, Marina, Schreiber, Gudrun, Schara, Ulrike, Trollmann, Regina, Horber, Veronka, Wilichowski, Ekkehard, Baumann, Matthias, Klein, Andrea, Eisenkölbl, Astrid, Köhler, Cornelia, Stettner, Georg M., Cirak, Sebahattin, Hasselmann, Oswald, Garbade, Sven F., Johannsen, Jessika, Ziegler, Andreas

Source: In The Lancet Regional Health - Europe December 2024 47

Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia

Authors: Hjeij, Rim, Aprea, Isabella, Poeta, Marco, Nöthe-Menchen, Tabea, Bracht, Diana, Raidt, Johanna, Honecker, Barbara I., Dougherty, Gerard W., Olbrich, Heike, Schwartz, Oliver, Keller, Ulrike, Nüsse, Harald, Diderich, Karin E.M., Vogelberg, Christian, Santamaria, Francesca, Omran, Heymut

Source: In Genetics in Medicine May 2023 25(5)

Cathepsin D as biomarker in cerebrospinal fluid of nusinersen‐treated patients with spinal muscular atrophy

Authors: 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, 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, 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, Ziegler, Andreas

Source: European journal of neurology. 29(7):2084-2096

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100160592674.0x000001&indx=1&recIds=ETOCvdc_100160592674.0x000001

L-Fucose treatment of FUT8-CDG

Authors: Park, Julien H., Reunert, Janine, He, Miao, Mealer, Robert G., Noel, Maxence, Wada, Yoshinao, Grüneberg, Marianne, Horváth, Judit, Cummings, Richard D., Schwartz, Oliver, Marquardt, Thorsten

Source: In Molecular Genetics and Metabolism Reports December 2020 25

The prognostic value of sleep spindles in long-term outcome of West Syndrome

Authors: Spenner, Benjamin, Krois-Neudenberger, Janna, Kurlemann, Gerhard, Althaus, Jürgen, Schwartz, Oliver, Fiedler, Barbara

Source: In European Journal of Paediatric Neurology November 2019 23(6):827-831

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing

Authors: Diebold, Isabel, Schön, Ulrike, Horvath, Rita, Schwartz, Oliver, Holinski-Feder, Elke, Kölbel, Heike, Abicht, Angela

Source: In Molecular and Cellular Probes April 2019 44:14-20

Characteristic clinical and ultrastructural findings in nesprinopathies

Authors: Kölbel, Heike, Abicht, Angela, Schwartz, Oliver, Katona, Istvan, Paulus, Werner, Neuen-Jacob, Eva, Weis, Joachim, Schara, Ulrike

Source: In European Journal of Paediatric Neurology March 2019 23(2):254-261

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

Authors: 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, Köhler, Cornelia

Source: Obstetrical & Gynecological Survey; Dec2024, Vol. 79 Issue 12, p702-704, 3p

Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening.

Authors: Kölbel, Heike, Kopka, Marius, Modler, Laura, Blaschek, Astrid, Schara-Schmidt, Ulrike, Vill, Katharina, Schwartz, Oliver, Müller-Felber, Wolfgang

Source: Journal of Neuromuscular Diseases; 2024, Vol. 11 Issue 1, p143-151, 9p

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

Authors: Olbrich, Heike, Cremers, Carolin, Loges, Niki T., Werner, Claudius, Nielsen, Kim G., Marthin, June K., Philipsen, Maria, Wallmeier, Julia, Pennekamp, Petra, Menchen, Tabea, Edelbusch, Christine, Dougherty, Gerard W., Schwartz, Oliver, Thiele, Holger, Altmüller, Janine, Rommelmann, Frank, Omran, Heymut

Source: In The American Journal of Human Genetics 1 October 2015 97(4):546-554

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.

Authors: Vill, Katharina¹ (AUTHOR), Schwartz, Oliver² (AUTHOR), Blaschek, Astrid¹ (AUTHOR), Gläser, Dieter³ (AUTHOR), Nennstiel, Uta⁴ (AUTHOR), Wirth, Brunhilde⁵ (AUTHOR), Burggraf, Siegfried⁶ (AUTHOR), Röschinger, Wulf⁶ (AUTHOR), Becker, Marc⁶ (AUTHOR), Czibere, Ludwig⁶ (AUTHOR), Durner, Jürgen^6,7 (AUTHOR), Eggermann, Katja⁸ (AUTHOR), Olgemöller, Bernhard⁹ (AUTHOR), Harms, Erik¹⁰ (AUTHOR), Schara, Ulrike¹¹ (AUTHOR), Kölbel, Heike¹¹ (AUTHOR), Müller-Felber, Wolfgang¹ (AUTHOR) Wolfgang.mueller-felber@med.uni-muenchen.de

Source: Orphanet Journal of Rare Diseases. 3/31/2021, Vol. 16 Issue 1, p1-10. 10p.

Subject Terms: *SPINAL muscular atrophy, *NEWBORN screening, *DIAGNOSTIC errors, *GENETIC testing, *WATCHFUL waiting

Geographic Terms: GERMANY

Desmoteplase zur lokalen Fibrinolyse intrazerebraler Blutungen in einem Großtiermodell
Desmoteplase for local fibrinolysis of intracerebral bleeding in a large animal model

Authors: Schwartz, Oliver

Availability: http://data.europeana.eu/aggregation/europeana/2048441/item_6ELXN7JDVX7E4JDIMGOH3N7SERDJSA7F

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

Authors: 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

Source: Journal of Neuromuscular Diseases; 2023, Vol. 10 Issue 1, p55-65, 11p

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening.

Authors: Kölbel, Heike, Modler, Laura, Blaschek, Astrid, Schara-Schmidt, Ulrike, Vill, Katharina, Schwartz, Oliver, Müller-Felber, Wolfgang

Source: Children; Dec2022, Vol. 9 Issue 12, p1829, 10p

Subject Terms: NEWBORN screening, SPINAL muscular atrophy, PSYCHOLOGY of parents, SATISFACTION, QUALITY of life, QUESTIONNAIRES, DESCRIPTIVE statistics, RESEARCH funding, PSYCHOLOGY of the sick, DATA analysis software, CHILDREN

Geographic Terms: GERMANY

Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?

Authors: Blaschek, Astrid, Kölbel, Heike, Schwartz, Oliver, Köhler, Cornelia, Gläser, Dieter, Eggermann, Katja, Hannibal, Iris, Schara-Schmidt, Ulrike, Müller-Felber, Wolfgang, Vill, Katharina

Source: Journal of Neuromuscular Diseases; 2022, Vol. 9 Issue 5, p597-605, 9p

Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany.

Authors: Hahn, Andreas, Günther, René, Ludolph, Albert, Schwartz, Oliver, Trollmann, Regina, Weydt, Patrick, Weiler, Markus, Neuland, Kathrin, Schwaderer, Martin Sebastian, Hagenacker, Tim, Risdiplam Compassionate Use Program Group

Source: Orphanet Journal of Rare Diseases; 7/19/2022, Vol. 17 Issue 1, p1-10, 10p

Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?

Authors: Schwartz, Oliver, Kölbel, Heike, Blaschek, Astrid, Gläser, Dieter, Burggraf, Siegfried, Röschinger, Wulf, Schara, Ulrike, Müller-Felber, Wolfgang, Vill, Katharina

Source: Journal of Neuromuscular Diseases; 2022, Vol. 9 Issue 3, p389-396, 8p

Neugeborenenscreeningprogramm für die spinale Muskelatrophie. (German)

Alternate Title: Newborn screening program for spinal muscular atrophy. (English)

Authors: Kölbel, Heike, Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Nennstiel, Uta, Schara-Schmidt, Ulrike, Hoffmann, Georg F., Gläser, Dieter, Röschinger, Wulf, Bernert, Günther, Klein, Andrea, Müller-Felber, Wolfgang

Source: Der Nervenarzt; Feb2022, Vol. 93 Issue 2, p135-141, 7p

Subject Terms: PROTEINS, THERAPEUTICS

Concerns About Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy—Reply.

Authors: Schwartz, Oliver, Pechmann, Astrid, Kirschner, Janbernd

Source: JAMA Pediatrics; Sep2024, Vol. 178 Issue 9, p955-955, 1p

Nuclear restriction of HIV-1 infection by SUN1.

Authors: Persaud, Mirjana, Selyutina, Anastasia, Buffone, Cindy, Opp, Silvana, Donahue, Daniel A., Schwartz, Oliver, Diaz-Griffero, Felipe

Source: Scientific Reports; 9/27/2021, Vol. 11 Issue 1, p1-16, 16p

Subject Terms: HIV, NUCLEAR membranes, CAPSIDS, MEMBRANE proteins, VIRAL proteins, CARRIER proteins, PROTEIN binding