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1. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

Author

Vill, Katharina, Tacke, Moritz, König, Anna, Baumann, Matthias, Baumgartner, Manuela, Steinbach, Meike, Bernert, Guenther, Blaschek, Astrid, Deschauer, Marcus, Flotats-Bastardas, Marina, Friese, Johannes, Goldbach, Susanne, Gross, Martin, Günther, René, Hahn, Andreas, Hagenacker, Tim, Hauser, Erwin, Horber, Veronka, Illsinger, Sabine, Johannsen, Jessika, Kamm, Christoph, Koch, Jan C., Koelbel, Heike, Koehler, Cornelia, Kolzter, Kirsten, Lochmüller, Hanns, Ludolph, Albert, Mensch, Alexander, Meyer zu Hoerste, Gerd, Mueller, Monika, Mueller-Felber, Wolfgang, Neuwirth, Christoph, Petri, Susanne, Probst-Schendzielorz, Kristina, Pühringer, Manuel, Steinbach, Robert, Schara-Schmidt, Ulrike, Schimmel, Mareike, Schrank, Bertold, Schwartz, Oliver, Schlachter, Kurt, Schwerin-Nagel, Annette, Schreiber, Gudrun, Smitka, Martin, Topakian, Raffi, Trollmann, Regina, Tuerk, Matthias, Theophil, Manuela, Rauscher, Christian, Vorgerd, Mathias, Walter, Maggie C., Weiler, Markus, Weiss, Claudia, Wilichowski, Ekkehard, Wurster, Claudia D., Wunderlich, Gilbert, Zeller, Daniel, Ziegler, Andreas, Kirschner, Janbernd, and Pechmann, Astrid

Published
2024
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2. 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

Author

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, and Ziegler, Andreas

Published
2024
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3. 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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5. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Author

Vera, Gabriella, Sorlin, Arthur, Delplancq, Geoffroy, Lecoquierre, François, Brasseur-Daudruy, Marie, Petit, Florence, Smol, Thomas, Ziegler, Alban, Bonneau, Dominique, Colin, Estelle, Mercier, Sandra, Cogné, Benjamin, Bézieau, Stéphane, Edery, Patrick, Lesca, Gaetan, Chatron, Nicolas, Sabatier, Isabelle, Duban-Bedu, Bénédicte, Colson, Cindy, Piton, Amélie, Durand, Benjamin, Capri, Yline, Perrin, Laurence, Wiesener, Antje, Zweier, Christiane, Maroofian, Reza, Carroll, Christopher J., Galehdari, Hamid, Mazaheri, Neda, Callewaert, Bert, Giulianno, Fabienne, Zaafrane-Khachnaoui, Khaoula, Buchert-Lo, Rebecca, Haack, Tobias, Magg, Janine, Rieß, Angelika, Blandfort, Maria, Waldmüller, Stephan, Horber, Veronka, Leonardi, Emanuela, Polli, Roberta, Turolla, Licia, Murgia, Alessandra, Frebourg, Thierry, Lebre, Anne Sophie, Nicolas, Gaël, Saugier-Veber, Pascale, and Guerrot, Anne-Marie

Published
2020
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6. Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

Author

Albuainain, Fatimah, Shi, Yuwei, Lor-Zade, Sarah, Hüffmeier, Ulrike, Pauly, Melissa, Reis, André, Faivre, Laurence, Maraval, Julien, Bruel, Ange Line, Them, Frédéric Tran Mau, Haack, Tobias B., Grasshoff, Ute, Horber, Veronka, Schot, Rachel, van Slegtenhorst, Marjon, Wilke, Martina, Barakat, Tahsin Stefan, Albuainain, Fatimah, Shi, Yuwei, Lor-Zade, Sarah, Hüffmeier, Ulrike, Pauly, Melissa, Reis, André, Faivre, Laurence, Maraval, Julien, Bruel, Ange Line, Them, Frédéric Tran Mau, Haack, Tobias B., Grasshoff, Ute, Horber, Veronka, Schot, Rachel, van Slegtenhorst, Marjon, Wilke, Martina, and Barakat, Tahsin Stefan

Abstract

Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such example is deletion at Xq22.2, previously associated with a neurodevelopmental disorder which has more recently been found to be caused by de novo loss-of-function variants in TCEAL1. So far, a single study reported six unrelated individuals with this monogenetic disorder, presenting with syndromic features including developmental delay especially affecting expressive speech, intellectual disability, autistic-like behaviors, hypotonia, gait abnormalities and mild facial dysmorphism, in addition to ocular, gastrointestinal, and immunologic abnormalities. Here we report on four previously undescribed individuals, including two adults, with de novo truncating variants in TCEAL1, identified through trio exome or genome sequencing, further delineating the phenotype of the TCEAL1-related disorder. Whereas overall we identify similar features compared to the original report, we also highlight features in our adult individuals including hyperphagia, obesity, and endocrine abnormalities including hyperinsulinemia, hyperandrogenemia, and polycystic ovarian syndrome. X chromosome inactivation and RNA-seq studies further provide functional insights in the molecular mechanisms. Together this report expands the phenotypic and molecular spectrum of the TCEAL1-related disorder which will be useful for counseling of newly identified individuals and their families.

Published
2024

7. 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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8. Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

Author

Albuainain, Fatimah, primary, Shi, Yuwei, additional, Lor-Zade, Sarah, additional, Hüffmeier, Ulrike, additional, Pauly, Melissa, additional, Reis, André, additional, Faivre, Laurence, additional, Maraval, Julien, additional, Bruel, Ange-Line, additional, Them, Frédéric Tran Mau, additional, Haack, Tobias B., additional, Grasshoff, Ute, additional, Horber, Veronka, additional, Schot, Rachel, additional, van Slegtenhorst, Marjon, additional, Wilke, Martina, additional, and Barakat, Tahsin Stefan, additional

Published
2024
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9. High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy

Author

Johannsen, Jessika, primary, Weiss, Deike, additional, Driemeyer, Joenna, additional, Olfe, Jakob, additional, Stute, Fridrike, additional, Müller, Ferdinand, additional, Schütt, Marion, additional, Trollmann, Regina, additional, Kölbel, Heike, additional, Schara-Schmidt, Ulrike, additional, Kirschner, Janbernd, additional, Pechmann, Astrid, additional, Blaschek, Astrid, additional, Horber, Veronka, additional, and Denecke, Jonas, additional

Published
2023
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10. 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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12. 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

13. MRI classification system (MRICS) for children with cerebral palsy: development, reliability, and recommendations

Author

Himmelmann, Kate, Horber, Veronka, De La Cruz, Javier, Horridge, Karen, MejaskiBosnjak, Vlatka, Hollody, Katalin, KrägelohMann, Ingeborg, Cans, C, Bakel, Van, Arnaud, C, Delobel, M, Chalmers, J, McManus, V, Lyons, A, Parkes, J, Dolk, H, Pahlman, M, Dowding, V, Colver, A, Pennington, L, Kurinczuk, J, Surman, G, Platt, MJ, Udall, P, Rackauskaite, G, Torrioli, MG, Marcelli, M, Andersen, G, Julsen Hollung, S, Bottos, M, Gaffney, G, Gaffney, G, Pallas, C, JekovecVrhovšek, M, Virella, D, Andrada, M, Greitane, A, Sigurdardottir, S, Einarsson, I, Honold, M, and Rostasy, K

Published
2017
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14. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study

Author

Weiß, Claudia, primary, Ziegler, Andreas, additional, Becker, Lena-Luise, additional, Johannsen, Jessika, additional, Brennenstuhl, Heiko, additional, Schreiber, Gudrun, additional, Flotats-Bastardas, Marina, additional, Stoltenburg, Corinna, additional, Hartmann, Hans, additional, Illsinger, Sabine, additional, Denecke, Jonas, additional, Pechmann, Astrid, additional, Müller-Felber, Wolfgang, additional, Vill, Katharina, additional, Blaschek, Astrid, additional, Smitka, Martin, additional, van der Stam, Lieske, additional, Weiss, Katja, additional, Winter, Benedikt, additional, Goldhahn, Klaus, additional, Plecko, Barbara, additional, Horber, Veronka, additional, Bernert, Günther, additional, Husain, Ralf A, additional, Rauscher, Christian, additional, Trollmann, Regina, additional, Garbade, Sven F, additional, Hahn, Andreas, additional, von der Hagen, Maja, additional, and Kaindl, Angela M, additional

Published
2022
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15. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.

Author

Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Schwersenz, Inge, Walter, Maggie C, Baumann, Matthias, Baumgartner, Manuela, Deschauer, Marcus, Eisenkölbl, Astrid, Flotats-Bastardas, Marina, Hahn, Andreas, Horber, Veronka, and Husain, Ralf A

Subjects
SPINAL muscular atrophy, NEUROMUSCULAR diseases, MUSCLE weakness, CHILDREN'S hospitals, MOVEMENT disorders
Abstract

5q-associated spinal muscular atrophy is a rare neuromuscular disorder with the leading symptom of a proximal muscle weakness. Three different drugs have been approved by the European Medicines Agency and Food and Drug Administration for the treatment of spinal muscular atrophy patients, however, long-term experience is still scarce. In contrast to clinical trial data with restricted patient populations and short observation periods, we report here real-world evidence on a broad spectrum of patients with early-onset spinal muscular atrophy treated with nusinersen focusing on effects regarding motor milestones, and respiratory and bulbar insufficiency during the first years of treatment. Within the SMArtCARE registry, all patients under treatment with nusinersen who never had the ability to sit independently before the start of treatment were identified for data analysis. The primary outcome of this analysis was the change in motor function evaluated with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and motor milestones considering World Health Organization criteria. Further, we evaluated data on the need for ventilator support and tube feeding, and mortality. In total, 143 patients with early-onset spinal muscular atrophy were included in the data analysis with a follow-up period of up to 38 months. We observed major improvements in motor function evaluated with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Improvements were greater in children >2 years of age at start of treatment than in older children. 24.5% of children gained the ability to sit independently. Major improvements were observed during the first 14 months of treatment. The need for intermittent ventilator support and tube feeding increased despite treatment with nusinersen. Our findings confirm the increasing real-world evidence that treatment with nusinersen has a dramatic influence on disease progression and survival in patients with early-onset spinal muscular atrophy. Major improvements in motor function are seen in children younger than 2 years at the start of treatment. Bulbar and respiratory function needs to be closely monitored, as these functions do not improve equivalent to motor function. [ABSTRACT FROM AUTHOR]

Published
2023
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16. The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy

Author

Horber, Veronka, Grasshoff, Ute, Sellier, Elodie, Arnaud, Catherine, Krägeloh-Mann, Ingeborg, and Himmelmann, Kate

Subjects
cerebral palsy, Neurology, classification, diagnosis, Perspective, magnetic resonance imaging, genetic analysis
Abstract

Cerebral magnetic resonance imaging (MRI) is considered an important tool in the assessment of a child with cerebral palsy (CP), as it is abnormal in more than 80% of children with CP, disclosing the pathogenic pattern responsible for the neurological condition. MRI, therefore, is recommended as the first diagnostic step after medical history taking and neurological examination. With the advances in genetic diagnostics, the genetic contribution to CP is increasingly discussed, and the question arises about the role of genetic testing in the diagnosis of cerebral palsy. The paper gives an overview on genetic findings reported in CP, which are discussed with respect to the underlying brain pathology according to neuroimaging findings. Surveillance of Cerebral Palsy in Europe (SCPE) classifies neuroimaging findings in CP into five categories, which help to stratify decisions concerning genetic testing. Predominant white and gray matter injuries are by far predominant (accounting for around 50 and 20% of the findings). They are considered to be acquired. Here, predisposing genetic factors may play a role to increase vulnerability (and should especially be considered, when family history is positive and/or causative external factors are missing). In maldevelopments and normal findings (around 11% each), monogenic causes are more likely, and thus, genetic testing is clearly recommended. In the miscellaneous category, the precise nature of the MRI finding has to be considered as it could indicate a genetic origin.

Published
2021

20. Biallelic loss of function variants inSYT2cause a treatable congenital onset presynaptic myasthenic syndrome

Author

Donkervoort, Sandra, primary, Mohassel, Payam, additional, Laugwitz, Lucia, additional, Zaki, Maha S., additional, Kamsteeg, Erik‐Jan, additional, Maroofian, Reza, additional, Chao, Katherine R., additional, Verschuuren‐Bemelmans, Corien C., additional, Horber, Veronka, additional, Fock, Annemarie J. M., additional, McCarty, Riley M., additional, Jain, Minal S., additional, Biancavilla, Victoria, additional, McMacken, Grace, additional, Nalls, Matthew, additional, Voermans, Nicol C., additional, Elbendary, Hasnaa M., additional, Snyder, Molly, additional, Cai, Chunyu, additional, Lehky, Tanya J., additional, Stanley, Valentina, additional, Iannaccone, Susan T., additional, Foley, A. Reghan, additional, Lochmüller, Hanns, additional, Gleeson, Joseph, additional, Houlden, Henry, additional, Haack, Tobias B., additional, Horvath, Rita, additional, and Bönnemann, Carsten G., additional

Published
2020
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21. Normative Observational Nerve Ultrasound Values in School-Age Children and Adolescents and Their Application to Hereditary Neuropathies

Author

Grimm, Anna-Sophie, primary, Schubert, Charlotte, additional, Grimm, Alexander, additional, Stahl, Jan-Hendrik, additional, Küpper, Hanna, additional, Horber, Veronka, additional, Kegele, Josua, additional, Willikens, Sophia, additional, Wittlinger, Julia, additional, Serna-Higuita, Lina, additional, Winter, Natalie, additional, and Groeschel, Samuel, additional

Published
2020
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23. The Origin of the Cerebral Palsies: Contribution of Population-Based Neuroimaging Data

Author

Horber, Veronka, additional, Sellier, Elodie, additional, Horridge, Karen, additional, Rackauskaite, Gija, additional, Andersen, Guro L., additional, Virella, Daniel, additional, Ortibus, Els, additional, Dakovic, Ivana, additional, Hensey, Owen, additional, Radsel, Anja, additional, Papavasiliou, Antigone, additional, Cruz De la, Javier, additional, Arnaud, Catherine, additional, Krägeloh-Mann, Ingeborg, additional, and Himmelmann, Kate, additional

Published
2020
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26. 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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28. Neuroimaging Patterns and Function in Cerebral Palsy—Application of an MRI Classification.

Author

Himmelmann, Kate, Horber, Veronka, Sellier, Elodie, De la Cruz, Javier, Papavasiliou, Antigone, and Krägeloh-Mann, Ingeborg

Subjects
CEREBRAL palsy, BRAIN imaging, SYMPTOMS, HEARING disorders, POSTURE disorders
Abstract

Background: Cerebral palsy (CP) is a disorder of movement and posture and every child with CP has a unique composition of neurological symptoms, motor severity, and associated impairments, constituting the functional profile. Although not part of the CP definition, magnetic resonance imaging (MRI) sheds light on the localization, nature, and severity of brain compromise. The MRI classification system (MRICS), developed by the Surveillance of Cerebral Palsy in Europe (SCPE), describes typical MRI patterns associated with specific timing of vulnerability in different areas of the brain. The classification has proven to be reliable and easy to use. Aims: The aim of this study is to apply the MRICS on a large dataset and describe the functional profile associated with the different MRI patterns of the MRICS. Materials and Methods: Data on children with CP born in 1999–2009 with a post-neonatal MRI from 20 European registers in the JRC-SCPE Central Registry was included. The CP classification and the MRICS was applied, and The Gross Motor Function Classification (GMFCS) and the Bimanual Fine Motor Function (BFMF) classification were used. The following associated impairments were documented: intellectual impairment, active epilepsy, visual impairment, and hearing impairment. An impairment index was used to characterize severity of impairment load. Results: The study included 3,818 children with post-neonatal MRI. Distribution of CP type, motor, and associated impairments differed by neuroimaging patterns. Functional profiles associated with neuroimaging patterns were described, and the impairment index showed that bilateral findings were associated with a more severe outcome both regarding motor impairment and associated impairments than unilateral compromise. The results from this study, particularly the differences in functional severity regarding uni- and bilateral brain compromise, may support counseling and service planning of support of children with CP. [ABSTRACT FROM AUTHOR]

Published
2021
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29. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.

Author

Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik‐Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren‐Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie J. M., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M., Snyder, Molly, Cai, Chunyu, and Lehky, Tanya J.

Abstract

Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve terminal. Synaptotagmin‐2 (SYT2), is the major isoform expressed at the neuromuscular junction. Recently, dominant missense variants in SYT2 have been reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment. These variants are thought to have a dominant‐negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated. Here we report seven patients of five families, with biallelic loss of function variants in SYT2, clinically manifesting with a remarkably consistent phenotype of severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings were consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in three patients showed clinical improvement with increased strength and function. This series further establishes SYT2 as a CMS‐disease gene and expands its clinical and genetic spectrum to include recessive loss‐of‐function variants, manifesting as a severe congenital onset presynaptic CMS with potential treatment implications. [ABSTRACT FROM AUTHOR]

Published
2020
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34. Microcephaly with simplified gyral pattern

Author

Vermeulen, R. Jeroen, Wilke, Marko, Horber, Veronka, and Krägeloh-Mann, Ingeborg

Abstract

To develop subjective (visual) and objective (morphometric) rating scales for the classification of MRI in infants who had microcephaly with a simplified gyral pattern (MSGP) and to validate the first by the latter.

Published
2010
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35. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

Author

Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S, Kamsteeg, Erik-Jan, Maroofian, Reza, Chao, Katherine R, Verschuuren-Bemelmans, Corien C, Horber, Veronka, Fock, Annemarie JM, McCarty, Riley M, Jain, Minal S, Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C, Elbendary, Hasnaa M, Snyder, Molly, Cai, Chunyu, Lehky, Tanya J, Stanley, Valentina, Iannaccone, Susan T, Foley, A Reghan, Lochmüller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B, Horvath, Rita, and Bönnemann, Carsten G

Subjects
neuromuscular junction, SYT2, congenital myasthenic syndrome, presynaptic CMS, synaptotagmins, 3. Good health
Abstract

Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve terminal. Synaptotagmin-2 (SYT2), is the major isoform expressed at the neuromuscular junction. Recently, dominant missense variants in SYT2 have been reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated. Here we report seven patients of five families, with biallelic loss of function variants in SYT2, clinically manifesting with a remarkably consistent phenotype of severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings were consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in three patients showed clinical improvement with increased strength and function. This series further establishes SYT2 as a CMS-disease gene and expands its clinical and genetic spectrum to include recessive loss-of-function variants, manifesting as a severe congenital onset presynaptic CMS with potential treatment implications.

36. Letter to the Editor.

Author

Krägelob-Mann, Ingeborg and Horber, Veronka

Subjects
*LETTERS to the editor, *MAGNETIC resonance imaging
Abstract

A response by Ingeborg Krägeloh-Mann and Veronka Horber to a letter to the editor about their article "The Role of Magnetic Resonance Imaging in Elucidating the Pathogenesis of Cerebral Palsy: A Systematic Review" is presented.

Published
2007
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