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

Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study

Authors: Günther, René, Wurster, Claudia Diana, Brakemeier, Svenja, Osmanovic, Alma, Schreiber-Katz, Olivia, Petri, Susanne, Uzelac, Zeljko, Hiebeler, Miriam, Thiele, Simone, Walter, Maggie C., Weiler, Markus, Kessler, Tobias, Freigang, Maren, Lapp, Hanna Sophie, Cordts, Isabell, Lingor, Paul, Deschauer, Marcus, Hahn, Andreas, Martakis, Kyriakos, Steinbach, Robert, Ilse, Benjamin, Rödiger, Annekathrin, Bellut, Julia, Nentwich, Julia, Zeller, Daniel, Muhandes, Mohamad Tareq, Baum, Tobias, Christoph Koch, Jan, Schrank, Bertold, Fischer, Sophie, Hermann, Andreas, Kamm, Christoph, Naegel, Steffen, Mensch, Alexander, Weber, Markus, Neuwirth, Christoph, Lehmann, Helmar C., Wunderlich, Gilbert, Stadler, Christian, Tomforde, Maike, George, Annette, Groß, Martin, Pechmann, Astrid, Kirschner, Janbernd, Türk, Matthias, Schimmel, Mareike, Bernert, Günther, Martin, Pascal, Rauscher, Christian, Meyer zu Hörste, Gerd, Baum, Petra, Löscher, Wolfgang, Flotats-Bastardas, Marina, Köhler, Cornelia, Probst-Schendzielorz, Kristina, Goldbach, Susanne, Schara-Schmidt, Ulrike, Müller-Felber, Wolfgang, Lochmüller, Hanns, von Velsen, Otgonzul, Kleinschnitz, Christoph, Ludolph, Albert C., Hagenacker, Tim

Source: In The Lancet Regional Health - Europe April 2024 39

Corneal confocal microscopy reveals small nerve fibre loss correlating with motor function in adult spinal muscular atrophy

Authors: Thimm, Andreas, Brakemeier, Svenja, Dag, Merve, Munoz Rosales, Juan, Stolte, Benjamin, Kleinschnitz, Christoph, Stettner, Mark, Hagenacker, Tim

Source: European journal of neurology. 30(9):2821-2827

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100189953291.0x000001&indx=1&recIds=ETOCvdc_100189953291.0x000001

Treatment of Adult Spinal Muscular Atrophy: Overview and Recent Developments

Authors: Brakemeier, Svenja, Stolte, Benjamin, Kleinschnitz, Christoph, Hagenacker, Tim

Source: Current pharmaceutical design. 28(11):892-898

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100157158984.0x000001&indx=1&recIds=ETOCvdc_100157158984.0x000001

Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach.

Authors: Kruse, Teresa, Leflerovà, Diana, Cap, Annette, Portegys, Sara, Wirth, Brunhilde, Heller, Raoul, Brakemeier, Svenja, Hagenacker, Tim, Braumann, Bert, Wunderlich, Gilbert

Source: Orphanet Journal of Rare Diseases; 10/15/2024, Vol. 19 Issue 1, p1-13, 13p

Subject Terms: SPINAL muscular atrophy, NEUROMUSCULAR system physiology, ORAL examinations (Education), CONTROL groups, CROSS-sectional method

Smooth pursuit eye movement deficits as a biomarker for psychotic features in bipolar disorder—Findings from the PARDIP study

Authors: Brakemeier, Svenja, Sprenger, Andreas, Meyhöfer, Inga, McDowell, Jennifer E., Rubin, Leah H., Hill, S. Kristian, Keshavan, Matcheri S., Pearlson, Godfrey D., Tamminga, Carol A., Gershon, Elliot S., Keedy, Sarah S., Sweeney, John A., Clementz, Brett A., Lencer, Rebekka

Source: Bipolar disorders. 22(6):602-611

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100106664718.0x000001&indx=1&recIds=ETOCvdc_100106664718.0x000001

Current State and Future Directions in the Diagnosis of Amyotrophic Lateral Sclerosis.

Authors: Vidovic, Maximilian, Müschen, Lars Hendrik, Brakemeier, Svenja, Machetanz, Gerrit, Naumann, Marcel, Castro-Gomez, Sergio

Source: Cells (2073-4409); Mar2023, Vol. 12 Issue 5, p736, 24p

Subject Terms: AMYOTROPHIC lateral sclerosis, DIAGNOSIS, THERAPEUTICS, SKELETAL muscle, DELAYED diagnosis, MOTOR neuron diseases

Assessment of Health-Related Quality of Life in Adult Spinal Muscular Atrophy Under Nusinersen Treatment—A Pilot Study.

Authors: Thimm, Andreas, Brakemeier, Svenja, Kizina, Kathrin, Munoz Rosales, Juan, Stolte, Benjamin, Totzeck, Andreas, Deuschl, Cornelius, Kleinschnitz, Christoph, Hagenacker, Tim

Source: Frontiers in Neurology; 1/24/2022, Vol. 12, p1-9, 9p

Subject Terms: SPINAL muscular atrophy, QUALITY of life, MUSCULAR atrophy, NEUROMUSCULAR diseases, ADULTS

Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen.

Authors: Brakemeier, Svenja¹ (AUTHOR) svenja.brakemeier@uk-essen.de, Stolte, Benjamin¹ (AUTHOR), Thimm, Andreas¹ (AUTHOR), Kizina, Kathrin¹ (AUTHOR), Totzeck, Andreas¹ (AUTHOR), Munoz-Rosales, Juan¹ (AUTHOR), Kleinschnitz, Christoph¹ (AUTHOR), Hagenacker, Tim¹ (AUTHOR) tim.hagenacker@uk-essen.de

Source: Brain Sciences (2076-3425). Sep2021, Vol. 11 Issue 9, p1244-1244. 1p.

Subject Terms: *SPINAL muscular atrophy, *AMYOTROPHIC lateral sclerosis, *FUNCTIONAL assessment, *ADULTS, *TREATMENT effectiveness

Cognitive Impairment in Adult Patients with 5q-Associated Spinal Muscular Atrophy.

Authors: Kizina, Kathrin, Akkaya, Yakup, Jokisch, Daniel, Stolte, Benjamin, Totzeck, Andreas, Munoz-Rosales, Juan, Thimm, Andreas, Bolz, Saskia, Brakemeier, Svenja, Pul, Refik, Aslan, Derya, Hackert, Jana, Kleinschnitz, Christoph, Hagenacker, Tim

Source: Brain Sciences (2076-3425); Sep2021, Vol. 11 Issue 9, p1184-1184, 1p

Subject Terms: WECHSLER Adult Intelligence Scale, SPINAL muscular atrophy, INTELLIGENCE levels, COGNITION disorders, INTELLIGENCE tests, ADULTS