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194 results on '"Cordts, Isabell"'

3. Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target

Author

Caldi Gomes, Lucas, Hänzelmann, Sonja, Hausmann, Fabian, Khatri, Robin, Oller, Sergio, Parvaz, Mojan, Tzeplaeff, Laura, Pasetto, Laura, Gebelin, Marie, Ebbing, Melanie, Holzapfel, Constantin, Columbro, Stefano Fabrizio, Scozzari, Serena, Knöferle, Johanna, Cordts, Isabell, Demleitner, Antonia F., Deschauer, Marcus, Dufke, Claudia, Sturm, Marc, Zhou, Qihui, Zelina, Pavol, Sudria-Lopez, Emma, Haack, Tobias B., Streb, Sebastian, Kuzma-Kozakiewicz, Magdalena, Edbauer, Dieter, Pasterkamp, R. Jeroen, Laczko, Endre, Rehrauer, Hubert, Schlapbach, Ralph, Carapito, Christine, Bonetto, Valentina, Bonn, Stefan, and Lingor, Paul

Published
2024
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4. Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany

Author

Heinrich, Felix, Cordts, Isabell, Günther, René, Stolte, Benjamin, Zeller, Daniel, Schröter, Carsten, Weyen, Ute, Regensburger, Martin, Wolf, Joachim, Schneider, Ilka, Hermann, Andreas, Metelmann, Moritz, Kohl, Zacharias, Linker, Ralf A., Koch, Jan Christoph, Radelfahr, Florentine, Schönfelder, Erik, Gardt, Pavel, Mohajer-Peseschkian, Tara, Osmanovic, Alma, Klopstock, Thomas, Dorst, Johannes, Ludolph, Albert C., Schöffski, Oliver, Boentert, Matthias, Hagenacker, Tim, Deschauer, Marcus, Lingor, Paul, Petri, Susanne, and Schreiber-Katz, Olivia

Published
2023
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5. Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study

Author

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., and Hagenacker, Tim

Published
2024
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7. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe

Published
2023
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8. Serum neurofilament light chain in distinct phenotypes of amyotrophic lateral sclerosis: A longitudinal, multicenter study

Author

Meyer, Thomas, primary, Dreger, Marie, additional, Grehl, Torsten, additional, Weyen, Ute, additional, Kettemann, Dagmar, additional, Weydt, Patrick, additional, Günther, René, additional, Lingor, Paul, additional, Petri, Susanne, additional, Koch, Jan Christoph, additional, Großkreutz, Julian, additional, Rödiger, Annekathrin, additional, Baum, Petra, additional, Hermann, Andreas, additional, Prudlo, Johannes, additional, Boentert, Matthias, additional, Weishaupt, Jochen H., additional, Löscher, Wolfgang N., additional, Dorst, Johannes, additional, Koc, Yasemin, additional, Bernsen, Sarah, additional, Cordts, Isabell, additional, Vidovic, Maximilian, additional, Steinbach, Robert, additional, Metelmann, Moritz, additional, Kleinveld, Vera E., additional, Norden, Jenny, additional, Ludolph, Albert, additional, Walter, Bertram, additional, Schumann, Peggy, additional, Münch, Christoph, additional, Körtvélyessy, Péter, additional, and Maier, André, additional

Published
2024
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10. 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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12. Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.

Author

Mandler, Julia M., Härtl, Johanna, Cordts, Isabell, Sturm, Marc, Hedderich, Dennis M., Bafligil, Cemsel, Baki, Enayatullah, Becker, Benedikt, Machetanz, Gerrit, Haack, Tobias B., Berthele, Achim, Hemmer, Bernhard, and Deschauer, Marcus

Subjects
MULTIPLE sclerosis, GENETIC testing, FAMILY history (Medicine), DIFFERENTIAL diagnosis, LEUKOENCEPHALOPATHIES
Abstract

Background: Multiple sclerosis (MS) shares clinical/radiological features with several monogenic diseases that can mimic MS. Objective: We aimed to determine if exome sequencing can identify monogenic diseases in patients diagnosed with MS according to the McDonald criteria thus uncovering them as being misdiagnosed. Methods: We performed whole exome sequencing in a cohort of 278 patients with MS, clinically or radiologically isolated syndrome without cerebrospinal fluid-specific oligoclonal bands (CSF-OCBs) (n = 228), a positive family history of MS (n = 44), or both (n = 6), thereby focusing on individuals potentially more likely to have underlying monogenic conditions mimicking MS. We prioritized 495 genes associated with monogenic diseases sharing features with MS. Results: A disease-causing variant in NOTCH3 was identified in one patient without CSF-OCBs, no spinal lesions, with non-response to immunotherapy, and a family history of dementia, thereby converting the diagnosis to cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Moreover, 18 patients (6.5% of total) carried variants of unclear significance. Conclusion: Monogenic diseases being misdiagnosed as MS seem rare in patients diagnosed with MS according to the McDonald criteria, even in CSF-OCB negative cases. The detected pathogenic NOTCH3 variant emphasizes CADASIL as a rare differential diagnosis and highlights the relevance of genetic testing in selected MS cases with atypical presentations. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study

Author

Hagenacker, Tim, Wurster, Claudia D, Günther, René, Schreiber-Katz, Olivia, Osmanovic, Alma, Petri, Susanne, Weiler, Markus, Ziegler, Andreas, Kuttler, Josua, Koch, Jan C, Schneider, Ilka, Wunderlich, Gilbert, Schloss, Natalie, Lehmann, Helmar C, Cordts, Isabell, Deschauer, Marcus, Lingor, Paul, Kamm, Christoph, Stolte, Benjamin, Pietruck, Lena, Totzeck, Andreas, Kizina, Kathrin, Mönninghoff, Christoph, von Velsen, Otgonzul, Ose, Claudia, Reichmann, Heinz, Forsting, Michael, Pechmann, Astrid, Kirschner, Janbernd, Ludolph, Albert C, Hermann, Andreas, and Kleinschnitz, Christoph

Published
2020
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17. Multiomic ALS signatures highlight sex differences and molecular subclusters and identify the MAPK pathway as therapeutic target

Author

Gomes, Lucas Caldi, primary, Hänzelmann, Sonja, additional, Oller, Sergio, additional, Parvaz, Mojan, additional, Hausmann, Fabian, additional, Khatri, Robin, additional, Ebbing, Melanie, additional, Holzapfel, Constantin, additional, Pasetto, Laura, additional, Columbro, Stefano Fabrizio, additional, Scozzari, Serena, additional, Gebelin, Marie, additional, Knöferle, Johanna, additional, Cordts, Isabell, additional, Demleitner, Antonia F., additional, Tzeplaeff, Laura, additional, Deschauer, Marcus, additional, Dufke, Claudia, additional, Sturm, Marc, additional, Zhou, Qihui, additional, Zelina, Pavol, additional, Sudria-Lopez, Emma, additional, Haack, Tobias B., additional, Streb, Sebastian, additional, Kuzma-Kozakiewicz, Magdalena, additional, Edbauer, Dieter, additional, Pasterkamp, R. Jeroen, additional, Laczko, Endre, additional, Rehrauer, Hubert, additional, Schlapbach, Ralph, additional, Carapito, Christine, additional, Bonetto, Valentina, additional, Bonn, Stefan, additional, and Lingor, Paul, additional

Published
2023
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18. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Author

Park, Joohyun, primary, Tucci, Arianna, additional, Cipriani, Valentina, additional, Demidov, German, additional, Rocca, Clarissa, additional, Senderek, Jan, additional, Butryn, Michaela, additional, Velic, Ana, additional, Lam, Tanya, additional, Galanaki, Evangelia, additional, Cali, Elisa, additional, Vestito, Letizia, additional, Maroofian, Reza, additional, Deininger, Natalie, additional, Rautenberg, Maren, additional, Admard, Jakob, additional, Hahn, Gesa-Astrid, additional, Bartels, Claudius, additional, van Os, Nienke J.H., additional, Horvath, Rita, additional, Chinnery, Patrick F., additional, Tiet, May Yung, additional, Hewamadduma, Channa, additional, Hadjivassiliou, Marios, additional, Downes, Susan M., additional, Németh, Andrea H., additional, Tofaris, George K., additional, Wood, Nicholas W., additional, Hayer, Stefanie N., additional, Bender, Friedemann, additional, Menden, Benita, additional, Cordts, Isabell, additional, Klein, Katrin, additional, Nguyen, Huu Phuc, additional, Krauss, Joachim K., additional, Blahak, Christian, additional, Strom, Tim M., additional, Sturm, Marc, additional, van de Warrenburg, Bart, additional, Lerche, Holger, additional, Maček, Boris, additional, Synofzik, Matthis, additional, Ossowski, Stephan, additional, Timmann, Dagmar, additional, Wolf, Marc E., additional, Smedley, Damian, additional, Riess, Olaf, additional, Schöls, Ludger, additional, Houlden, Henry, additional, Haack, Tobias B., additional, and Hengel, Holger, additional

Published
2023
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21. Performance of serum neurofilament light chain in a wide spectrum of clinical courses of amyotrophic lateral sclerosis—a cross‐sectional multicenter study

Author

Meyer, Thomas, primary, Salkic, Erma, additional, Grehl, Torsten, additional, Weyen, Ute, additional, Kettemann, Dagmar, additional, Weydt, Patrick, additional, Günther, René, additional, Lingor, Paul, additional, Koch, Jan Christoph, additional, Petri, Susanne, additional, Hermann, Andreas, additional, Prudlo, Johannes, additional, Großkreutz, Julian, additional, Baum, Petra, additional, Boentert, Matthias, additional, Metelmann, Moritz, additional, Norden, Jenny, additional, Cordts, Isabell, additional, Weishaupt, Jochen H., additional, Dorst, Johannes, additional, Ludolph, Albert, additional, Koc, Yasemin, additional, Walter, Bertram, additional, Münch, Christoph, additional, Spittel, Susanne, additional, Dreger, Marie, additional, Maier, André, additional, and Körtvélyessy, Péter, additional

Published
2023
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24. Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers—A Prospective, Cross-Sectional, Multi-Center Analysis

Author

Wohnrade, Camilla, primary, Velling, Ann-Kathrin, additional, Mix, Lucas, additional, Wurster, Claudia D., additional, Cordts, Isabell, additional, Stolte, Benjamin, additional, Zeller, Daniel, additional, Uzelac, Zeljko, additional, Platen, Sophia, additional, Hagenacker, Tim, additional, Deschauer, Marcus, additional, Lingor, Paul, additional, Ludolph, Albert C., additional, Lulé, Dorothée, additional, Petri, Susanne, additional, Osmanovic, Alma, additional, and Schreiber-Katz, Olivia, additional

Published
2023
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25. Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis

Author

Ruf, Wolfgang P, primary, Boros, Matej, additional, Freischmidt, Axel, additional, Brenner, David, additional, Grozdanov, Veselin, additional, de Meirelles, Joao, additional, Meyer, Thomas, additional, Grehl, Torsten, additional, Petri, Susanne, additional, Grosskreutz, Julian, additional, Weyen, Ute, additional, Guenther, Rene, additional, Regensburger, Martin, additional, Hagenacker, Tim, additional, Koch, Jan C, additional, Emmer, Alexander, additional, Roediger, Annekathrin, additional, Steinbach, Robert, additional, Wolf, Joachim, additional, Weishaupt, Jochen H, additional, Lingor, Paul, additional, Deschauer, Marcus, additional, Cordts, Isabell, additional, Klopstock, Thomas, additional, Reilich, Peter, additional, Schoeberl, Florian, additional, Schrank, Berthold, additional, Zeller, Daniel, additional, Hermann, Andreas, additional, Knehr, Antje, additional, Günther, Kornelia, additional, Dorst, Johannes, additional, Schuster, Joachim, additional, Siebert, Reiner, additional, Ludolph, Albert C, additional, and Müller, Kathrin, additional

Published
2023
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27. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Author

Park, Joohyun, primary, Tucci, Arianna, additional, Cipriani, Valentina, additional, Demidov, German, additional, Rocca, Clarissa, additional, Senderek, Jan, additional, Butryn, Michaela, additional, Velic, Ana, additional, Lam, Tanya, additional, Galanaki, Evangelia, additional, Cali, Elisa, additional, Vestito, Letizia, additional, Maroofian, Reza, additional, Deininger, Natalie, additional, Rautenberg, Maren, additional, Admard, Jakob, additional, Hahn, Gesa-Astrid, additional, Bartels, Claudius, additional, van Os, Nienke J.H., additional, Horvath, Rita, additional, Chinnery, Patrick F., additional, Tiet, May Yung, additional, Hewamadduma, Channa, additional, Hadjivassiliou, Marios, additional, Tofaris, George K., additional, Wood, Nicholas W., additional, Hayer, Stefanie N., additional, Bender, Friedemann, additional, Menden, Benita, additional, Cordts, Isabell, additional, Klein, Katrin, additional, Nguyen, Huu Phuc, additional, Krauss, Joachim K., additional, Blahak, Christian, additional, Strom, Tim M., additional, Sturm, Marc, additional, van de Warrenburg, Bart, additional, Lerche, Holger, additional, Maček, Boris, additional, Synofzik, Matthis, additional, Ossowski, Stephan, additional, Timmann, Dagmar, additional, Wolf, Marc E., additional, Smedley, Damian, additional, Riess, Olaf, additional, Schöls, Ludger, additional, Houlden, Henry, additional, Haack, Tobias B., additional, Hengel, Holger, additional, Ambrose, J.C., additional, Arumugam, P., additional, Baple, E.L., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boissiere, J.M., additional, Boustred, C.R., additional, Brittain, H., additional, Caulfield, M.J., additional, Chan, G.C., additional, Craig, C.E.H., additional, Daugherty, L.C., additional, de Burca, A., additional, Devereau, A., additional, Elgar, G., additional, Foulger, R.E., additional, Fowler, T., additional, Furió-Tarí, P., additional, Hackett, J.M., additional, Halai, D., additional, Hamblin, A., additional, Henderson, S., additional, Holman, J.E., additional, Hubbard, T.J.P., additional, Ibáñez, K., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Lahnstein, L., additional, Lawson, K., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, Maleady-Crowe, F., additional, Mason, J., additional, McDonagh, E.M., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Polychronopoulos, D., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Riesgo-Ferreiro, P., additional, Rogers, T., additional, Ryten, M., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smedley, D., additional, Smith, K.R., additional, Sosinsky, A., additional, Spooner, W., additional, Stevens, H.E., additional, Stuckey, A., additional, Sultana, R., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tregidgo, C., additional, Tucci, A., additional, Walsh, E., additional, Watters, S.A., additional, Welland, M.J., additional, Williams, E., additional, Witkowska, K., additional, Wood, S.M., additional, and Zarowiecki, M., additional

Published
2022
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30. Bi‐AllelicCOQ4Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease

Author

Cordts, Isabell, primary, Semmler, Luisa, additional, Prasuhn, Jannik, additional, Seibt, Annette, additional, Herebian, Diran, additional, Navaratnarajah, Tharsini, additional, Park, Joohyun, additional, Deininger, Natalie, additional, Laugwitz, Lucia, additional, Göricke, Sophia L., additional, Lingor, Paul, additional, Brüggemann, Norbert, additional, Münchau, Alexander, additional, Synofzik, Matthis, additional, Timmann, Dagmar, additional, Mayr, Johannes A., additional, Haack, Tobias B., additional, Distelmaier, Felix, additional, and Deschauer, Marcus, additional

Published
2022
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31. GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing

Author

Mensch, Alexander, primary, Cordts, Isabell, additional, Scholle, Leila, additional, Joshi, Pushpa Raj, additional, Kleeberg, Kathleen, additional, Emmer, Alexander, additional, Beck-Woedl, Stefanie, additional, Park, Joohyun, additional, Haack, Tobias B., additional, Stoltenburg-Didinger, Gisela, additional, Zierz, Stephan, additional, and Deschauer, Marcus, additional

Published
2022
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32. Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment

Author

Freigang, Maren, Wurster, Claudia D., Hagenacker, Tim, Stolte, Benjamin, Weiler, Markus, Kamm, Christoph, Schreiber-Katz, Olivia, Osmanovic, Alma, Petri, Susanne, Kowski, Alexander, Meyer, Thomas, Koch, Jan C., Cordts, Isabell, Deschauer, Marcus, Lingor, Paul, Aust, Elisa, Petzold, Daniel, Ludolph, Albert C., Falkenburger, Björn, Hermann, Andreas, and Günther, René

Subjects
Adult, Male, Adolescent, Medizin, Oligonucleotides, Neurosciences. Biological psychiatry. Neuropsychiatry, physiopathology [Muscular Atrophy, Spinal], Muscular Atrophy, Spinal, Young Adult, blood [Creatinine], Humans, ddc:610, RC346-429, Creatine Kinase, Research Articles, Aged, Retrospective Studies, blood [Creatine Kinase], pharmacology [Oligonucleotides], blood [Biomarkers], drug therapy [Muscular Atrophy, Spinal], Patient Acuity, Middle Aged, Prognosis, Creatinine, blood [Muscular Atrophy, Spinal], Disease Progression, Female, Neurology. Diseases of the nervous system, diagnosis [Muscular Atrophy, Spinal], Biomarkers, RC321-571, Research Article
Abstract

Objective: To determine whether serum creatine kinase activity (CK) and serum creatinine concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease progression, and nusinersen treatment effects in adult patients with 5q-associated spinal muscular atrophy (SMA). Methods: Within this retrospective, multicenter observational study in 206 adult patients with SMA, we determined clinical subtypes (SMA types, ambulatory ability) and repeatedly measured CK and Crn and examined disease severity scores (Hammersmith Functional Motor Scale Expanded, Revised Upper Limb Module, and revised Amyotrophic Lateral Sclerosis Functional Rating Scale). Patients were followed under nusinersen treatment for 18 months. Results: CK and Crn differed between clinical subtypes and correlated strongly with disease severity scores (e.g., for Hammersmith Functional Motor Scale Expanded: (CK) ρ = 0.786/ (Crn) ρ = 0.558). During the 18 months of nusinersen treatment, CK decreased (∆CK = −17.56%, p

Published
2021

33. Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD ND): Time to Move Beyond the Skin

Author

Cordts, Isabell, primary, Önder, Demet, additional, Traschütz, Andreas, additional, Kobeleva, Xenia, additional, Karin, Ivan, additional, Minnerop, Martina, additional, Koertvelyessy, Peter, additional, Biskup, Saskia, additional, Forchhammer, Stephan, additional, Binder, Johannes, additional, Tzschach, Andreas, additional, Meiss, Frank, additional, Schmidt, Axel, additional, Kreiß, Martina, additional, Cremer, Kirsten, additional, Mensah, Martin A., additional, Park, Joohyun, additional, Rautenberg, Maren, additional, Deininger, Natalie, additional, Sturm, Marc, additional, Lingor, Paul, additional, Klopstock, Thomas, additional, Weiler, Markus, additional, Marxreiter, Franz, additional, Synofzik, Matthis, additional, Posch, Christian, additional, Sirokay, Judith, additional, Klockgether, Thomas, additional, Haack, Tobias B., additional, and Deschauer, Marcus, additional

Published
2022
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35. Safety and Effectiveness of Long-term Intravenous Administration of Edaravone for Treatment of Patients With Amyotrophic Lateral Sclerosis

Author

Witzel, Simon, Maier, André, Prudlo, Johannes, Cordts, Isabell, Lingor, Paul, Löscher, Wolfgang N, Kohl, Zacharias, Hagenacker, Tim, Ruckes, Christian, Koch, Birgit, Spittel, Susanne, Günther, Kornelia, Steinbach, Robert, Michels, Sebastian, Dorst, Johannes, Meyer, Thomas, Ludolph, Albert C, Network, German Motor Neuron Disease, Grosskreutz, Julian, Koch, Jan C, Sarikidi, Anastasia, Petri, Susanne, Günther, René, Wolf, Joachim, and Hermann, Andreas

Subjects
Male, drug therapy [Amyotrophic Lateral Sclerosis], Middle Aged, Respiration, Artificial, Risk Assessment, therapeutic use [Edaravone], Cohort Studies, Treatment Outcome, Double-Blind Method, Patient Satisfaction, Edaravone, Disease Progression, Humans, Patient Compliance, Administration, Intravenous, adverse effects [Edaravone], Female, Neurology (clinical), ddc:610, Propensity Score
Abstract

Intravenous edaravone is approved as a disease-modifying drug for patients with amyotrophic lateral sclerosis (ALS), but evidence for efficacy is limited to short-term beneficial effects shown in the MCI186-ALS19 study in a subpopulation in which efficacy was expected.To evaluate the long-term safety and effectiveness of intravenous edaravone therapy for patients with ALS in a real-world clinical setting.Multicenter, propensity score-matched cohort study conducted between June 2017 and March 2020 at 12 academic ALS referral centers associated with the German Motor Neuron Disease Network. Of 1440 patients screened, 738 were included in propensity score matching. Final analyses included 324 patients with ALS comprising 194 patients who started intravenous edaravone treatment (141 received ≥4 consecutive treatment cycles; 130 matched) and 130 propensity score-matched patients with ALS receiving standard therapy. All patients had probable or definite ALS according to the El Escorial criteria, with disease onset between December 2012 and April 2019. Subgroups were defined by applying the MCI186-ALS19 study inclusion criteria to evaluate whether patients would have been considered eligible (EFAS) or ineligible (non-EFAS).Intravenous edaravone plus riluzole vs riluzole only.Patient characteristics and systematic safety assessment for patients who received at least 1 dose of intravenous edaravone. Effectiveness assessment of edaravone was conducted among patients who received at least 4 treatment cycles compared with propensity score-matched patients with ALS who received only standard therapy. Primary outcome was disease progression measured by decrease in the ALS Functional Rating Scale-Revised (ALSFRS-R) score. Secondary outcomes were survival probability, time to ventilation, and change in disease progression before vs during treatment. To account for the matched design, patients receiving edaravone and their corresponding matched controls were regarded as related samples in disease progression analyses; stratification for propensity score quintiles was used for survival probability and time to ventilation analyses.A total of 194 patients started intravenous edaravone treatment; 125 (64%) were male, and the median age was 57.5 years (IQR, 50.7-63.8 years). Potential adverse effects were observed in 30 cases (16%), most notably infections at infusion sites and allergic reactions. Disease progression among 116 patients treated for a median of 13.9 months (IQR, 8.9-13.9 months) with edaravone did not differ from 116 patients treated for a median of 11.2 months (IQR, 6.4-20.0 months) with standard therapy (ALSFRS-R points/month, -0.91 [95% CI, -0.69 to -1.07] vs -0.85 [95% CI, -0.66 to -0.99]; P = .37). No significant differences were observed in the secondary end points of survival probability, time to ventilation, and change in disease progression. Similarly, outcomes between patients treated with edaravone and matched patients did not differ within the EFAS and non-EFAS subgroups.This cohort study using propensity score matching found that, although long-term intravenous edaravone therapy for patients with ALS was feasible and mainly well tolerated, it was not associated with any disease-modifying benefit. Intravenous edaravone may not provide a clinically relevant additional benefit compared with standard therapy alone.

Published
2022

36. 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

37. Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy

Author

Binz, Camilla, primary, Osmanovic, Alma, additional, Thomas, Nele H., additional, Stolte, Benjamin, additional, Freigang, Maren, additional, Cordts, Isabell, additional, Griep, Ramona, additional, Uzelac, Zeljko, additional, Wurster, Claudia D., additional, Kamm, Christoph, additional, Siegler, Hannah A., additional, Wieselmann, Gary, additional, Hermann, Andreas, additional, Lingor, Paul, additional, Deschauer, Marcus, additional, Ludolph, Albert C., additional, Meyer, Thomas, additional, Günther, René, additional, Hagenacker, Tim, additional, Petri, Susanne, additional, and Schreiber‐Katz, Olivia, additional

Published
2022
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38. Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

Author

Demidov, German, Park, Joohyun, Armeanu‐Ebinger, Sorin, Roggia, Cristiana, Faust, Ulrike, Cordts, Isabell, Blandfort, Maria, Haack, Tobias B., Schroeder, Christopher, and Ossowski, Stephan

Subjects
Diagnostic Tests, Routine, Genetics, Medical, Computational Biology, High-Throughput Nucleotide Sequencing, mobile elements insertions, structural variants, Molecular Sequence Annotation, Oncogenes, Sequence Analysis, DNA, Original Articles, QH426-470, Mutagenesis, Insertional, Rare Diseases, Exome Sequencing, DNA Transposable Elements, Genetics, Humans, Genetic Predisposition to Disease, Original Article, Genetic Testing, genetic diagnostics, targeted sequencing, Germ-Line Mutation
Abstract

Background Targeted sequencing approaches such as gene panel or exome sequencing have become standard of care for the diagnosis of rare and common genetic disease. The detection and interpretation of point mutations, small insertions and deletions, and even exon‐level copy number variants are well established in clinical genetic testing. Other types of genetic variation such as mobile elements insertions (MEIs) are technically difficult to detect. In addition, their downstream clinical interpretation is more complex compared to point mutations due to a larger genomic footprint that can not only predict a clear loss of protein function but might disturb gene regulation and splicing even when located within the non‐coding regions. As a consequence, the contribution of MEIs to disease and tumor development remains largely unexplored in routine diagnostics. Methods In this study, we investigated the occurrence of MEIs in 7,693 exome datasets from individuals with rare diseases and healthy relatives as well as 788 cancer patients analyzed by panel sequencing. Results We present several exemplary cases highlighting the diagnostic value of MEIs and propose a strategy for the detection, prioritization, and clinical interpretation of MEIs in routine clinical diagnostics. Conclusion In this paper, we state that detection and interpretation of MEIs in clinical practice in targeted NGS data can be performed relatively easy despite the fact that MEIs very rarely occur in coding parts of the human genome. Large scale reanalysis of MEIs in existing cohorts may solve otherwise unsolvable cases., Mobile elements insertions (MEIs) are technically difficult to detect in targeted NGS data. In this study, we investigated the occurrence of MEIs in 7,693 exome datasets from individuals with rare diseases and healthy relatives as well as 788 cancer patients analyzed by panel sequencing. We present several exemplary cases highlighting the diagnostic value of MEIs and propose a strategy for the detection, prioritization, and clinical interpretation of MEIs in routine clinical diagnostics.

Published
2021

39. Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis

Author

Cordts, Isabell, primary, Hecker, Judith S, additional, Gauck, Darja, additional, Park, Joohyun, additional, Härtl, Johanna, additional, Günthner, Roman, additional, Hammitzsch, Ariane, additional, Schoser, Benedikt, additional, Abeck, Dietrich, additional, Götze, Katharina S, additional, Haack, Tobias B, additional, Deschauer, Marcus, additional, Moog, Philipp, additional, and Hemmer, Bernhard, additional

Published
2021
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40. Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia

Author

Park, Joohyun, primary, Reilaender, Annemarie, additional, Petry-Schmelzer, Jan N., additional, Stöbe, Petra, additional, Cordts, Isabell, additional, Harmuth, Florian, additional, Rautenberg, Maren, additional, Woerz, Sarah E., additional, Demidov, German, additional, Sturm, Marc, additional, Ossowski, Stephan, additional, Schwaibold, Eva M.C., additional, Wunderlich, Gilbert, additional, Paus, Sebastian, additional, Saft, Carsten, additional, and Haack, Tobias B., additional

Published
2021
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41. Sweet-Syndrom, Myofasziitis und myelodysplastisches Syndrom - eine seltene Koinzidenz mit einer noch selteneren Ursache

Author

Moog, Philipp, Cordts, Isabell, Götze, Katharina, Schoser, Benedikt, Abeck, Dietrich, and Hammitzsch, Ariane

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Vorgeschichte: Ein bei Präsentation 71-jähriger Patient litt seit 10 Jahren an einer akut aufgetretenen steroidsensitiven chronisch-rezidivierenden Dermatose mit teils makulopapulösen, teils plaque-artigen Effloreszenzen, die trotz wiederholter histologischer und umfangreicher internistischer[zum vollständigen Text gelangen Sie über die oben angegebene URL], Deutscher Rheumatologiekongress 2021, 49. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 35. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), Wissenschaftliche Herbsttagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)

Published
2021

42. Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.

Author

Cordts, Isabell, Semmler, Luisa, Prasuhn, Jannik, Seibt, Annette, Herebian, Diran, Navaratnarajah, Tharsini, Park, Joohyun, Deininger, Natalie, Laugwitz, Lucia, Göricke, Sophia L., Lingor, Paul, Brüggemann, Norbert, Münchau, Alexander, Synofzik, Matthis, Timmann, Dagmar, Mayr, Johannes A., Haack, Tobias B., Distelmaier, Felix, and Deschauer, Marcus

Subjects
*PROTEINS, *GENETIC mutation, *MITOCHONDRIAL pathology, *CEREBELLAR ataxia, *UBIQUINONES, *MUSCLE weakness, *SPASTICITY, *ATAXIA
Abstract

Background: COQ4 codes for a mitochondrial protein required for coenzyme Q10 (CoQ10 ) biosynthesis. Autosomal recessive COQ4-associated CoQ10 deficiency leads to an early-onset mitochondrial multi-organ disorder.Methods: In-house exome and genome datasets (n = 14,303) were screened for patients with bi-allelic variants in COQ4. Work-up included clinical characterization and functional studies in patient-derived cell lines.Results: Six different COQ4 variants, three of them novel, were identified in six adult patients from four different families. Three patients had a phenotype of hereditary spastic paraparesis, two sisters showed a predominant cerebellar ataxia, and one patient had mild signs of both. Studies in patient-derived fibroblast lines revealed significantly reduced amounts of COQ4 protein, decreased CoQ10 concentrations, and elevated levels of the metabolic intermediate 6-demethoxyubiquinone.Conclusion: We report bi-allelic variants in COQ4 causing an adult-onset ataxia-spasticity spectrum phenotype and a disease course much milder than previously reported. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2022
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43. sj-pdf-1-tan-10.1177_1756286421998902 – Supplemental material for Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy

Author

Osmanovic, Alma, Ranxha, Gresa, Kumpe, Mareike, Wurster, Claudia D., Stolte, Benjamin, Cordts, Isabell, Günther, René, Freigang, Maren, Müschen, Lars H., Binz, Camilla, Hermann, Andreas, Deschauer, Marcus, Lingor, Paul, Ludolph, Albert C., Hagenacker, Tim, Schreiber-Katz, Olivia, and Petri, Susanne

Subjects
FOS: Clinical medicine, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases
Abstract

Supplemental material, sj-pdf-1-tan-10.1177_1756286421998902 for Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy by Alma Osmanovic, Gresa Ranxha, Mareike Kumpe, Claudia D. Wurster, Benjamin Stolte, Isabell Cordts, René Günther, Maren Freigang, Lars H. Müschen, Camilla Binz, Andreas Hermann, Marcus Deschauer, Paul Lingor, Albert C. Ludolph, Tim Hagenacker, Olivia Schreiber-Katz and Susanne Petri in Therapeutic Advances in Neurological Disorders

Published
2021
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44. Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin.

Author

Cordts, Isabell, Önder, Demet, Traschütz, Andreas, Kobeleva, Xenia, Karin, Ivan, Minnerop, Martina, Koertvelyessy, Peter, Biskup, Saskia, Forchhammer, Stephan, Binder, Johannes, Tzschach, Andreas, Meiss, Frank, Schmidt, Axel, Kreiß, Martina, Cremer, Kirsten, Mensah, Martin A., Park, Joohyun, Rautenberg, Maren, Deininger, Natalie, and Sturm, Marc

Abstract

Background: Variants in genes of the nucleotide excision repair (NER) pathway have been associated with heterogeneous clinical presentations ranging from xeroderma pigmentosum to Cockayne syndrome and trichothiodystrophy. NER deficiencies manifest with photosensitivity and skin cancer, but also developmental delay and early‐onset neurological degeneration. Adult‐onset neurological features have been reported in only a few xeroderma pigmentosum cases, all showing at least mild skin manifestations. Objective: The aim of this multicenter study was to investigate the frequency and clinical features of patients with biallelic variants in NER genes who are predominantly presenting with neurological signs. Methods: In‐house exome and genome datasets of 14,303 patients, including 3543 neurological cases, were screened for deleterious variants in NER‐related genes. Clinical workup included in‐depth neurological and dermatological assessments. Results: We identified 13 patients with variants in ERCC4 (n = 8), ERCC2 (n = 4), or XPA (n = 1), mostly proven biallelic, including five different recurrent and six novel variants. All individuals had adult‐onset progressive neurological deterioration with ataxia, dementia, and frequently chorea, neuropathy, and spasticity. Brain magnetic resonance imaging showed profound global brain atrophy in all patients. Dermatological examination did not show any skin cancer or pronounced ultraviolet damage. Conclusions: We introduce NERDND as adult‐onset neurodegeneration (ND) within the spectrum of autosomal recessive NER disorders (NERD). Our study demonstrates that NERDND is probably an underdiagnosed cause of neurodegeneration in adulthood and should be considered in patients with overlapping cognitive and movement abnormalities. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

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2022
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45. Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives

Author

Schischlevskij, Pavel, primary, Cordts, Isabell, additional, Günther, René, additional, Stolte, Benjamin, additional, Zeller, Daniel, additional, Schröter, Carsten, additional, Weyen, Ute, additional, Regensburger, Martin, additional, Wolf, Joachim, additional, Schneider, Ilka, additional, Hermann, Andreas, additional, Metelmann, Moritz, additional, Kohl, Zacharias, additional, Linker, Ralf A., additional, Koch, Jan Christoph, additional, Stendel, Claudia, additional, Müschen, Lars H., additional, Osmanovic, Alma, additional, Binz, Camilla, additional, Klopstock, Thomas, additional, Dorst, Johannes, additional, Ludolph, Albert C., additional, Boentert, Matthias, additional, Hagenacker, Tim, additional, Deschauer, Marcus, additional, Lingor, Paul, additional, Petri, Susanne, additional, and Schreiber-Katz, Olivia, additional

Published
2021
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46. Heterozygous UCHL1loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Author

Park, Joohyun, Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Velic, Ana, Lam, Tanya, Galanaki, Evangelia, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J.H., Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Tofaris, George K., Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., and Hengel, Holger

Abstract

Biallelic variants in UCHL1have been associated with a progressive early-onset neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study, we investigated heterozygous UCHL1variants on the basis of results from cohort-based burden analyses.

Published
2022
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47. A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany

Author

Peseschkian, Tara, primary, Cordts, Isabell, additional, Günther, René, additional, Stolte, Benjamin, additional, Zeller, Daniel, additional, Schröter, Carsten, additional, Weyen, Ute, additional, Regensburger, Martin, additional, Wolf, Joachim, additional, Schneider, Ilka, additional, Hermann, Andreas, additional, Metelmann, Moritz, additional, Kohl, Zacharias, additional, Linker, Ralf A., additional, Koch, Jan Christoph, additional, Büchner, Boriana, additional, Weiland, Ulrike, additional, Schönfelder, Erik, additional, Heinrich, Felix, additional, Osmanovic, Alma, additional, Klopstock, Thomas, additional, Dorst, Johannes, additional, Ludolph, Albert C., additional, Boentert, Matthias, additional, Hagenacker, Tim, additional, Deschauer, Marcus, additional, Lingor, Paul, additional, Petri, Susanne, additional, and Schreiber-Katz, Olivia, additional

Published
2021
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48. Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum

Author

Kaiyrzhanov, Rauan, primary, Wortmann, Saskia, additional, Reid, Taryn, additional, Dehghani, Mohammadreza, additional, Vahidi Mehrjardi, Mohammad Yahya, additional, Alhaddad, Bader, additional, Wagner, Matias, additional, Deschauer, Marcus, additional, Cordts, Isabell, additional, Fernandez-Murray, J Pedro, additional, Treffer, Veronika, additional, Metanat, Zahra, additional, Pittman, Alan, additional, Houlden, Henry, additional, Meitinger, Thomas, additional, Carroll, Christopher, additional, McMaster, Christopher R, additional, and Maroofian, Reza, additional

Published
2021
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49. Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy

Author

Osmanovic, Alma, primary, Ranxha, Gresa, additional, Kumpe, Mareike, additional, Wurster, Claudia D., additional, Stolte, Benjamin, additional, Cordts, Isabell, additional, Günther, René, additional, Freigang, Maren, additional, Müschen, Lars H., additional, Binz, Camilla, additional, Hermann, Andreas, additional, Deschauer, Marcus, additional, Lingor, Paul, additional, Ludolph, Albert C., additional, Hagenacker, Tim, additional, Schreiber-Katz, Olivia, additional, and Petri, Susanne, additional

Published
2021
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