Metabolic syndrome is common in adults with 5q‐spinal muscular atrophy and impacts quality of life and fatigue
Bjelica, Bogdan, Wohnrade, Camilla, Osmanovic, Alma, Schreiber‐Katz, Olivia, Schuppner, Ramona, Greten, Stephan, Petri, Susanne
Published in Muscle & nerve (01.08.2024)
Published in Muscle & nerve (01.08.2024)
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Journal Article
Treatment expectations and perception of therapy in adult patients with spinal muscular atrophy receiving nusinersen
Meyer, Thomas, Maier, André, Uzelac, Zeljko, Hagenacker, Tim, Günther, René, Schreiber‐Katz, Olivia, Weiler, Markus, Steinbach, Robert, Weyen, Ute, Koch, Jan Christoph, Kettemann, Dagmar, Norden, Jenny, Dorst, Johannes, Wurster, Claudia, Ludolph, Albert C., Stolte, Benjamin, Freigang, Maren, Osmanovic, Alma, Petri, Susanne, Grosskreutz, Julian, Rödiger, Annekathrin, Griep, Ramona, Gaudlitz, Marcel, Walter, Bertram, Münch, Christoph, Spittel, Susanne
Published in European journal of neurology (01.08.2021)
Published in European journal of neurology (01.08.2021)
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Journal Article
Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment
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, Günther, René
Published in Annals of clinical and translational neurology (01.05.2021)
Published in Annals of clinical and translational neurology (01.05.2021)
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Journal Article
Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy
Freigang, Maren, Steinacker, Petra, Wurster, Claudia D., Schreiber‐Katz, Olivia, Osmanovic, Alma, Petri, Susanne, Koch, Jan C., Rostásy, Kevin, Huss, André, Tumani, Hayrettin, Winter, Benedikt, Falkenburger, Björn, Ludolph, Albert C., Otto, Markus, Hermann, Andreas, Günther, René
Published in Annals of clinical and translational neurology (01.09.2022)
Published in Annals of clinical and translational neurology (01.09.2022)
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Journal Article
Cerebrospinal Fluid Parameters in Antisense Oligonucleotide-Treated Adult 5q-Spinal Muscular Atrophy Patients
Müschen, Lars Hendrik, Osmanovic, Alma, Binz, Camilla, Jendretzky, Konstantin F, Ranxha, Gresa, Bronzlik, Paul, Abu-Fares, Omar, Wiehler, Flavia, Möhn, Nora, Hümmert, Martin W, Gingele, Stefan, Götz, Friedrich, Stangel, Martin, Skripuletz, Thomas, Schreiber-Katz, Olivia, Petri, Susanne
Published in Brain sciences (26.02.2021)
Published in Brain sciences (26.02.2021)
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Journal Article
Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy
Binz, Camilla, Osmanovic, Alma, Thomas, Nele H., Stolte, Benjamin, Freigang, Maren, Cordts, Isabell, Griep, Ramona, Uzelac, Zeljko, Wurster, Claudia D., Kamm, Christoph, Siegler, Hannah A., Wieselmann, Gary, Hermann, Andreas, Lingor, Paul, Deschauer, Marcus, Ludolph, Albert C., Meyer, Thomas, Günther, René, Hagenacker, Tim, Petri, Susanne, Schreiber‐Katz, Olivia
Published in Annals of clinical and translational neurology (01.03.2022)
Published in Annals of clinical and translational neurology (01.03.2022)
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Journal Article
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
Murphy, Lindsay B., Schreiber‐Katz, Olivia, Rafferty, Karen, Robertson, Agata, Topf, Ana, Willis, Tracey A., Heidemann, Marcel, Thiele, Simone, Bindoff, Laurence, Laurent, Jean‐Pierre, Lochmüller, Hanns, Mathews, Katherine, Mitchell, Claudia, Stevenson, John Herbert, Vissing, John, Woods, Lacey, Walter, Maggie C., Straub, Volker
Published in Annals of clinical and translational neurology (01.05.2020)
Published in Annals of clinical and translational neurology (01.05.2020)
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Journal Article
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Bladen, Catherine L., Salgado, David, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmüller, Hanns
Published in Human mutation (01.04.2015)
Published in Human mutation (01.04.2015)
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Improvement of muscle strength in specific muscular regions in nusinersen-treated adult patients with 5q-spinal muscular atrophy
Schreiber-Katz, Olivia, Siegler, Hannah Alexandra, Wieselmann, Gary, Kumpe, Mareike, Ranxha, Gresa, Petri, Susanne, Osmanovic, Alma
Published in Scientific reports (17.04.2023)
Published in Scientific reports (17.04.2023)
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Journal Article
Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy
Freigang, Maren, Steinacker, Petra, Wurster, Claudia Diana, Schreiber-Katz, Olivia, Osmanovic, Alma, Petri, Susanne, Koch, Jan Christoph, Rostásy, Kevin, Falkenburger, Björn, Ludolph, Albert Christian, Otto, Markus, Hermann, Andreas, Günther, René
Published in Orphanet journal of rare diseases (28.07.2021)
Published in Orphanet journal of rare diseases (28.07.2021)
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Journal Article
Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)
Mix, Lucas, Schreiber-Katz, Olivia, Wurster, Claudia D, Uzelac, Zeljko, Platen, Sophia, Gipperich, Christina, Ranxha, Gresa, Wieselmann, Gary, Osmanovic, Alma, Ludolph, Albert C, Petri, Susanne, Lulé, Dorothée
Published in Orphanet journal of rare diseases (06.01.2021)
Published in Orphanet journal of rare diseases (06.01.2021)
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Journal Article
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Koeks, Zaïda, Bladen, Catherine L, Salgado, David, van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew I, Roy, Anna J, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, van den Bergen, Janneke C, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan J, Lochmüller, Hanns
Published in Journal of neuromuscular diseases (21.11.2017)
Published in Journal of neuromuscular diseases (21.11.2017)
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HMGB1 and RAGE in skeletal muscle inflammation: Implications for protein accumulation in inclusion body myositis
Muth, Ingrid E., Zschüntzsch, Jana, Kleinschnitz, Konstanze, Wrede, Arne, Gerhardt, Ellen, Balcarek, Peter, Schreiber-Katz, Olivia, Zierz, Stephan, Dalakas, Marinos C., Voll, Reinhard E., Schmidt, Jens
Published in Experimental neurology (01.09.2015)
Published in Experimental neurology (01.09.2015)
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Journal Article
Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany
Schreiber-Katz, Olivia, Klug, Constanze, Thiele, Simone, Schorling, Elisabeth, Zowe, Janet, Reilich, Peter, Nagels, Klaus H, Walter, Maggie C
Published in Orphanet journal of rare diseases (18.12.2014)
Published in Orphanet journal of rare diseases (18.12.2014)
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Journal Article
Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy
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, Petri, Susanne
Published in Therapeutic advances in neurological disorders (2021)
Published in Therapeutic advances in neurological disorders (2021)
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Journal Article
Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives
Schischlevskij, Pavel, 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, Stendel, Claudia, Müschen, Lars H., Osmanovic, Alma, Binz, Camilla, Klopstock, Thomas, Dorst, Johannes, Ludolph, Albert C., Boentert, Matthias, Hagenacker, Tim, Deschauer, Marcus, Lingor, Paul, Petri, Susanne, Schreiber-Katz, Olivia
Published in Brain sciences (04.06.2021)
Published in Brain sciences (04.06.2021)
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Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients
Osmanovic, Alma, Gogol, Isabel, Martens, Helge, Widjaja, Maylin, Müller, Kathrin, Schreiber-Katz, Olivia, Feuerhake, Friedrich, Langhans, Claus-Dieter, Schmidt, Gunnar, Andersen, Peter M, Ludolph, Albert C, Weishaupt, Jochen H, Brand, Frank, Petri, Susanne, Weber, Ruthild G
Published in Genes (01.01.2022)
Published in Genes (01.01.2022)
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