233 results on '"Osmanovic, Alma"'
Search Results
2. Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
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Graessner, Holm, Reinhard, Carola, Bäumer, Tobias, Baumgärtner, Annette, Brockmann, Knut, Brüggemann, Norbert, Bültmann, Eva, Erdmann, Jeanette, Heise, Kirstin, Höglinger, Günter, Hüning, Irina, Kaiser, Frank J., Klein, Christine, Klopstock, Thomas, Krägeloh-Mann, Ingeborg, Kraemer, Markus, Luedtke, Kerstin, Mücke, Martin, Musacchio, Thomas, Nadke, Andreas, Osmanovic, Alma, Ritter, Gabriele, Röse, Katharina, Schippers, Christopher, Schöls, Ludger, Schüle, Rebecca, Schulz, Jörg B., Sproß, Joachim, Stasch, Eveline, Wunderlich, Gilbert, and Münchau, Alexander
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- 2024
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3. Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany
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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
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- 2023
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4. Improvement of muscle strength in specific muscular regions in nusinersen-treated adult patients with 5q-spinal muscular atrophy
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Schreiber-Katz, Olivia, Siegler, Hannah Alexandra, Wieselmann, Gary, Kumpe, Mareike, Ranxha, Gresa, Petri, Susanne, and Osmanovic, Alma
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- 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
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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
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- 2024
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6. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Hop, Paul J, Zwamborn, Ramona AJ, de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B, Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M, Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs HP, van Eijk, Kristel R, Kooyman, Maarten, Byrne, Ross P, Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N, Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J, Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H, Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S, Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A, Ross, Jay P, Ludolph, Albert C, Weishaupt, Jochen H, Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine AM, Saker-Delye, Safa, Wood, Nicholas W, Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, and Kraft, Julia
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Human Genome ,Neurodegenerative ,Clinical Research ,Rare Diseases ,Prevention ,ALS ,Neurosciences ,Genetics ,Brain Disorders ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Amyotrophic Lateral Sclerosis ,Brain ,Cholesterol ,Disease Progression ,Female ,Genome-Wide Association Study ,Glutamine ,Humans ,Male ,Mendelian Randomization Analysis ,Microsatellite Repeats ,Mutation ,Neurodegenerative Diseases ,Neurons ,Quantitative Trait Loci ,RNA-Seq ,Risk Factors ,SLALOM Consortium ,PARALS Consortium ,SLAGEN Consortium ,SLAP Consortium ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
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- 2021
7. An observational cohort study on pulmonary function in adult patients with 5q-spinal muscular atrophy under nusinersen therapy
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Bjelica, Bogdan, Wohnrade, Camilla, Osmanovic, Alma, Schreiber-Katz, Olivia, and Petri, Susanne
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- 2023
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8. Cranial nerve involvement in patients with immune-mediated neuropathy: An observational blink reflex study
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Körner, Sonja, Maximilian Koch, Markus, Hendrik Müschen, Lars, Seeliger, Tabea, Schreiber-Katz, Olivia, Gingele, Stefan, Stangel, Martin, Dengler, Reinhard, Petri, Susanne, Skripuletz, Thomas, and Osmanovic, Alma
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- 2023
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9. A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics
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Osmanovic, Alma, Förster, Alisa, Widjaja, Maylin, Auber, Bernd, Das, Anibh M., Christians, Anne, Brand, Frank, Petri, Susanne, and Weber, Ruthild G.
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- 2022
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10. Metabolic syndrome is common in adults with 5q‐spinal muscular atrophy and impacts quality of life and fatigue.
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Bjelica, Bogdan, Wohnrade, Camilla, Osmanovic, Alma, Schreiber‐Katz, Olivia, Schuppner, Ramona, Greten, Stephan, and Petri, Susanne
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Introduction/Aims: Spinal muscular atrophy (SMA) is a multisystem disorder. We assessed metabolic syndrome (MetS) prevalence in adults with SMA and its association with motor function, quality of life (QoL), fatigue, and depression. Methods: MetS was diagnosed using 2009 consensus criteria. Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), Fatigue Severity Scale (FSS), Beck Depression Inventory (BDI), and 36‐Item Short Form Health Survey (SF‐36) were recorded and correlations between muscle function, depression, fatigue, QoL, and MetS were analyzed. Results: We included 36 individuals (18 males; mean age: 38.7 ± 14.6 years). MetS was present in 25.0%. The most common component of MetS was central obesity (69.7%). Nearly half of the SMA individuals exhibited at least one abnormal lipid level result. Individuals with MetS more frequently were SMA type 3 (77.8% vs. 37.0%, p =.02) and had higher levels of fatigue (48.4 ± 6.7 vs. 39.5 ± 11.6, p =.03) than those without MetS. No associations of the presence of MetS with ambulatory status or HFMSE/RULM scores were observed. SMA individuals with MetS scored significantly lower in mental and social domains of QoL and total SF‐36 score (p =.04). We observed weak to moderate correlations between the presence of MetS and SMA type, presence of comorbidities, QoL, and fatigue. Discussion: The frequency of MetS was modestly higher among adults with SMA than in the general population, particularly in SMA type 3. MetS was associated with reduced QoL and increased fatigue. Larger studies are needed to fully understand the significance of MetS in adults with SMA. [ABSTRACT FROM AUTHOR]
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- 2024
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11. An observational cohort study on impact, dimensions and outcome of perceived fatigue in adult 5q-spinal muscular atrophy patients receiving nusinersen treatment
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Binz, Camilla, Schreiber-Katz, Olivia, Kumpe, Mareike, Ranxha, Gresa, Siegler, Hannah, Wieselmann, Gary, Petri, Susanne, and Osmanovic, Alma
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- 2021
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12. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study
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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
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- 2020
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13. Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)
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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, and Lulé, Dorothée
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- 2021
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14. Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy
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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, and Günther, René
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- 2021
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15. Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant
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Della Marina, Adela, Hentschel, Andreas, Stenzel, Martin, Schara-Schmidt, Ulrike, Osmanovic, Alma, Ruck, Tobias, Grüneboom, Anika, Röbisch, Luisa, Beygo, Jasmin, Kölbel, Heike, Gangfuss, Andrea, Kaiser, Frank J, Schänzer, Anne, Kale, Dipali, and Roos, Andreas
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- 2024
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16. Treatment expectations and patient-reported outcomes of nusinersen therapy in adult spinal muscular atrophy
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Osmanovic, Alma, Ranxha, Gresa, Kumpe, Mareike, Müschen, Lars, Binz, Camilla, Wiehler, Flavia, Paracka, Lejla, Körner, Sonja, Kollewe, Katja, Petri, Susanne, and Schreiber-Katz, Olivia
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- 2020
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17. Impact of comorbidities and co-medication on disease onset and progression in a large German ALS patient group
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Diekmann, Kristin, Kuzma-Kozakiewicz, Magdalena, Piotrkiewicz, Maria, Gromicho, Marta, Grosskreutz, Julian, Andersen, Peter M., de Carvalho, Mamede, Uysal, Hilmi, Osmanovic, Alma, Schreiber-Katz, Olivia, Petri, Susanne, and Körner, Sonja
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- 2020
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18. Motor function and treatment satisfaction in adult patients with 5q-spinal muscular atrophy treated with risdiplam: real-world experience from a single neuromuscular center in Germany
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Bjelica, Bogdan, primary, Wohnrade, Camilla, additional, Cespedes, Iraima, additional, Osmanovic, Alma, additional, Schreiber-Katz, Olivia, additional, and Petri, Susanne, additional
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- 2023
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19. Safety and efficacy of rasagiline as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomised, double-blind, parallel-group, placebo-controlled, phase 2 trial
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Funke, Andreas, Kettemann, Dagmar, Meyer, Robert, Meyer, Thomas, Grehl, Torsten, Gruhn, Kai, Schwenkreis, Peter, Stude, Philipp, Heneka, Michael T, Kurzwelly, Delia, Hermann, Andreas, Storch, Alexander, Richter, Nicole, Frank, Tobias, Göricke, Bettina, Hein, Katharina, Emmer, Alexander, Hanisch, Frank, Hanke, Dagmar, Kraya, Torsten, Posa, Andreas, Romanakova, Martina, Schilling, Susanne, Abdulla, Susanne, Böselt, Sebastian, Janssen, Claas, Lange, Imken, Kobeleva, Xenia, Körner, Sonja, Kollewe, Katja, Osmanovic, Alma, Petri, Susanne, Scharn, Nicole, Rath, Klaus J, Dahms, Christiane, Grosskreutz, Julian, Gunkel, Anne, Heiling, Bianka, Ringer, Thomas, Smesny, Uta, Baumeister, Sarah, Berthele, Achim, Bublitz, Sarah, Winkler, Andrea S, Akova-Öztürk, Esra, Boentert, Matthias, Stubbe-Dräger, Bianca, Rahmann, Alexandra, Young, Charlotte, Young, Peter, Baldaranov, Dobri, Bogdahn, Ulrich, Wollebæk Johannesen, Siw, Khomenko, Andrei, Schulte-Mattler, Wilhelm, Stadler, Christina, Husung, Susanne, Prudlo, Johannes, Tesar, Simone, Dargah-Zaden, Nigar, Last, Christina, Langer, Eva, Ludolph, Albert C, Weishaupt, Jochen H, Weiland, Ulrike, Lauenstein, Ann-Sophie, Lensch, Eckard, Mc Farlane, Carolyn, Fischer-Brasse, Heike, Orbán, Klara, Schrank, Bertold, Schürger, Sonja, Klebe, Stephan, Kraft, Peter, Musacchio, Thomas, Seiler, Carola, Zeller, Daniel, Schuster, Joachim, Dorst, Johannes, Dupuis, Luc, Dreyhaupt, Jens, Kassubek, Jan, and Schrank, Berthold
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- 2018
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20. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Jr., Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., and Veldink, Jan H.
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- 2022
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21. Costs of illness in amyotrophic lateral sclerosis (ALS): a cross-sectional survey in Germany
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Schönfelder, Erik, Osmanovic, Alma, Müschen, Lars Hendrik, Petri, Susanne, and Schreiber-Katz, Olivia
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- 2020
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22. Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease
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Grosse, Gerrit M., Bauer, Christine, Kopp, Bruno, Schrader, Christoph, and Osmanovic, Alma
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- 2020
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23. Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers—A Prospective, Cross-Sectional, Multi-Center Analysis
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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
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- 2023
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24. Correlation analysis of gamma dose rate from natural radiation in the test field
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Avdic Senada, Pehlivanovic Beco, Music Mersad, and Osmanovic Alma
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gamma dose rate ,natural radiation ,survey meter ,gamma spectrometer ,test field ,correlation ,Nuclear and particle physics. Atomic energy. Radioactivity ,QC770-798 - Abstract
This paper deals with correlation analysis of gamma dose rate measured in the test field with the five distinctive soil samples from a few minefields in Federation of Bosnia and Herzegovina. The measurements of ambient dose equivalent rate, due to radionuclides present in each of the soil samples, were performed by the RADIAGEMTM 2000 portable survey meter, placed on the ground and 1m above the ground. The gamma spectrometric analysis of the same soil samples was carried out by GAMMA-RAD5 spectrometer. This study showed that there is a high correlation between the absorbed dose rate evaluated from soil radioactivity and the corresponding results obtained by the survey meter placed on the ground. Correlation analysis indicated that the survey meter, due to its narrow energy range, is not suitable for the examination of cosmic radiation contribution.
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- 2016
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25. In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein
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Richter, Alev, Hollstein, Ronja, Hebert, Eva, Vulinovic, Franca, Eckhold, Juliane, Osmanovic, Alma, Depping, Reinhard, Kaiser, Frank J., and Lohmann, Katja
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- 2017
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26. Measurement of natural environmental radioactivity and estimation of population exposure in Bihac, Bosnia and Herzegovina
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Pehlivanovic, Beco, Avdic, Senada, Gazdic, Izet, and Osmanovic, Alma
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- 2017
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27. Prevalence of Anti-Adeno-Associated Virus Serotype 9 Antibodies in Adult Patients with Spinal Muscular Atrophy
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Stolte, Benjamin, primary, Schreiber-Katz, Olivia, additional, Günther, René, additional, Wurster, Claudia Diana, additional, Petri, Susanne, additional, Osmanovic, Alma, additional, Freigang, Maren, additional, Uzelac, Zeljko, additional, Leo, Markus, additional, von Velsen, Otgonzul, additional, Bayer, Wibke, additional, Dittmer, Ulf, additional, Kleinschnitz, Christoph, additional, and Hagenacker, Tim, additional
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- 2022
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28. Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy
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Freigang, Maren, primary, Steinacker, Petra, additional, Wurster, Claudia D., additional, Schreiber‐Katz, Olivia, additional, Osmanovic, Alma, additional, Petri, Susanne, additional, Koch, Jan C., additional, Rostásy, Kevin, additional, Huss, André, additional, Tumani, Hayrettin, additional, Winter, Benedikt, additional, Falkenburger, Björn, additional, Ludolph, Albert C., additional, Otto, Markus, additional, Hermann, Andreas, additional, and Günther, René, additional
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- 2022
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29. Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment
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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
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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
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- 2021
30. Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients
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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., 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, and Weber, Ruthild G.
- Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive upper and lower motor neuron (LMN) loss. As ALS and other neurodegenerative diseases share genetic risk factors, we performed whole-exome sequencing in ALS patients focusing our analysis on genes implicated in neurodegeneration. Thus, variants in the DHTKD1 gene encoding dehydrogenase E1 and transketolase domain containing 1 previously linked to 2-aminoadipic and 2-oxoadipic aciduria, Charcot-Marie-Tooth (CMT) disease type 2, and spinal muscular atrophy (SMA) were identified. In two independent European ALS cohorts (n = 643 cases), 10 sporadic cases of 225 (4.4%) predominantly sporadic patients of cohort 1, and 12 familial ALS patients of 418 (2.9%) ALS families of cohort 2 harbored 14 different rare heterozygous DHTKD1 variants predicted to be deleterious. Four DHTKD1 variants were previously described pathogenic variants, seven were recurrent, and eight were located in the E1_dh dehydrogenase domain. Nonsense variants located in the E1_dh domain were significantly more prevalent in ALS patients versus controls. The phenotype of ALS patients carrying DHTKD1 variants partially overlapped with CMT and SMA by presence of sensory impairment and a higher frequency of LMN-predominant cases. Our results argue towards rare heterozygous DHTKD1 variants as potential contributors to ALS phenotype and, possibly, pathogenesis.
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- 2022
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31. Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy
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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, 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, and Günther, René
- Abstract
Objective: Activated astroglia is involved in the pathophysiology of neurodegenerative diseases and has also been described in animal models of spinal muscular atrophy (SMA). Given the urgent need of biomarkers for treatment monitoring of new RNA-modifying and gene replacement therapies in SMA, we examined glial fibrillary acidic protein concentrations in cerebrospinal fluid (cGFAP) as a marker of astrogliosis in SMA. - Methods: 58 adult patients and 21 children with genetically confirmed 5q-associated SMA from four German motor neuron disease specialist care centers and 30 age- and sex-matched controls were prospectively included in this study. cGFAP was measured and correlated to motor performance and disease severity. Additionally, we compared fL). - Results: cGFAP concentrations did not differ from controls but showed higher levels in more severely affected patients after adjustment for patients’ age. Normalized cNfL values were associated with disease severity. Within 14 months of nusinersen treatment, cGFAP concentrations did not change, while cNfL decreased significantly. - Interpretation: cGFAP is not an outstanding biomarker in SMA, but might support the hypothesis that glial activation is involved in SMA pathology. Unlike previously suggested, cNfL may be a promising biomarker also in adult patients with SMA, which should be subject to further investigations.
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- 2022
32. Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy
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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
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- 2022
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33. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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Rheenen, Wouter van, Spek, Rick A. A. van der, Bakker, Mark K., Vugt, Joke J. F. A. van, Hop, Paul J., Zwamborn, Ramona A. J., Klein, Niek de, Westra, Harm Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Needham, Merrilee, Ceroni, Mauro, Simoncini, Costanza, Gagliardi, Stella, Corrado, Lucia, Garton, Fleur C., Mazzini, Letizia, Westeneng, Henk Jan, Ross, Jay P., Valluzzi, Francesco, Aguggia, Marco, Raggi, Flavia, Rini, Augusto, Traynor, Bryan J., Singleton, Andrew B., Ngo, Shyuan T., Corcia, Philippe, Olsen, Catherine M., Hofman, Albert, Van Eijk, Kristel R., Pasterkamp, R. Jeroen, Tittmann, Lukas, Iacoangeli, Alfredo, Mitne Neto, Miguel, Sproviero, Daisy, Cauchi, Ruben J., Ophoff, Roel A., Wiedau Pazos, Martina, Lomen-Hoerth, Catherine, Deerlin, Vivianna M. van, Nicholson, Garth A., Brylev, Lev, Whiteman, David C., Grosskreutz, Julian, Fan, Dongsheng, Couratier, Philippe, Roediger, Annekathrin, Gaur, Nayana, D’alfonso, Sandra, Uitterlinden, André G., Pamphlett, Roger, Fominykh, Vera, Byrne, Ross P., Lieb, Wolfgang, Iazzolino, Barbara, Dekker, Annelot M., Slap Consortium, Demeshonok, Vera, Millecamps, Stéphanie, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Franke, Andre, Mcrae, Allan F., Rowe, Dominic B., Peotta, Laura, Cooper-Knock, Johnathan, Glavač, Damjan, Doherty, Mark, Rietschel, Marcella, Stević, Zorica, Drory, Vivian, Meininger, Vincent, Zarrelli, Michele, Povedano, Monica, Gaunt, Tom R., Steyn, Frederik J., Williams, Kelly L., Smith, Bradley N., Cugnasco, Paolo, Papurello, Diego Maria, Nozzoli, Cecilia, Sorarù, Gianni, Mather, Karen A., Ripke, Stephan, Nöthen, Markus M., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, Carvalho, Mamede de, Gromicho, Marta, Pinto, Susana, Marco, Giovanni de, Al Khleifat, Ahmad, Eberle, Michael A., Braun, Alice, Gusmaroli, Graziano, Siciliano, Gabriele, Petri, Susanne, Breen, Gerome, Weber, Markus, Rouleau, Guy A., Rojas García, Ricardo, Silani, Vincenzo, Amouyel, Philippe, Ghiglione, Paolo, Davey Smith, George, Curtis, Charles J., Shatunov, Aleksey, Mill, Jonathan, Mclaughlin, Russell L., Filosto, Massimiliano, Comi, Cristoforo, Gerfo, Annalisa lo, Ferlini, Alessandra, Riva, Nilo, Mora Pardina, Jesus S., Chiveri, Luca, Hardiman, Orla, Torrieri, Maria Claudia, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Padovani, Alessandro, Chandran, Siddharthan, Al Chalabi, Ammar, Assialioui, Abdelilah, Labate, Carmelo, Damme, Philip van, Ticozzi, Nicola, Palumbo, Francesca, Inghilleri, Maurizio, Chiò, Adriano, Pal, Suvankar, Lunetta, Christian, Jörk, Alexander, Cichon, Sven, Kraft, Julia, Morrison, Karen E., Ruiz, Luigi, Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Dion, Patrick A., Calvo, Andrea, Kooyman, Maarten, Başak, Nazli, Gerardi, Francesca, Simone, Isabella L., Kooi, Anneke J. van der, Ratti, Antonia, Ferrandi, Delfina, Fogh, Isabella, Ludolph, Albert C., Moglia, Cristina, Brunetti, Maura, Diamanti, Luca, Barthel, Tabea, Blair, Ian P., Es, Michael A. van, Gallone, Salvatore, Canosa, Antonio, Guerra, Vito, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Ferrarese, Carlo, Nefussy, Beatrice, Theele, Erik, Rinaldi, Fabrizio, Weishaupt, Jochen H., Kiernan, Matthew C., Barberis, Marco, Osmanovic, Alma, Baloh, Robert H., Nordin, Angelica, Lerner, Yossef, Vito, Nicoletta di, Zabari, Michal, Zoccolella, Stefano, Heverin, Mark, Gotkine, Marc, Guaita, Maria Cristina, Brenner, David, Freischmidt, Axel, Sbaiz, Luca, Benyamin, Beben, Glass, Jonathan D., Landers, John E., Tazelaar, Gijs H. P., Rota, Eugenia, Bensimon, Gilbert, Ilse, Benjamin, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Gentile, Salvatore, Moisse, Matthieu, Topp, Simon, Henderson, Robert D., Rademakers, Rosa, Perrone, Patrizia, Stubendorff, Beatrice, Brown, Robert H., Restuadi, Restuadi, Tremolizzo, Lucio, Mundi, Ciro, Berg, Leonard H. van den, Passarella, Bruno, Delodovici, Maria Luisa, Furlong, Sarah, Bono, Giorgio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Meineri, Piero, Mauro, Alessandro, Hannon, Eilis, Casale, Federico, Leone, Maurizio, Shaw, Christopher E., Fuda, Giuseppe, Salamone, Paolina, Mathers, Susan, Baird, Denis, Launaro, Nicola, Marchi, Fabiola de, Veldink, Jan H., Gellera, Cinzia, Salachas, François, Witte, Otto W., Andersen, Peter M., Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Odddenino, Enrico, Slalom Consortium, Tamma, Filippo, Dotta, Michele, Lauria, Giuseppe, Steinbach, Robert, Imperiale, Daniele, Geda, Claudio, Dolzhenko, Egor, Cavallo, Roberto, Pignatta, Pietro, Groen, Ewout J. N., Cotelli, Maria Sofia, Mattei, Marco de, Calabrese, Gianluigi, Sapio, Alessia di, Giardini, Guido, Hübner, Christian A., Corti, Stefania, Bell, Shaughn, Comi, Giancarlo, Mccombe, Pamela A., Tiloca, Cinzia, Parals Consortium, Gawor, Klara, Peverelli, Silvia, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Graff, Caroline, Comi, Giacomo P., Cereda, Cristina, Bo, Roberto del, Boero, Giovanni, Slagen Consortium, Vourc’h, Patrick, Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Benyamin, Beben, Veldink, Jan H, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, van Rheenen, W, van der Spek, R, Bakker, M, van Vugt, J, Hop, P, Zwamborn, R, de Klein, N, Westra, H, Bakker, O, Deelen, P, Shireby, G, Hannon, E, Moisse, M, Baird, D, Restuadi, R, Dolzhenko, E, Dekker, A, Gawor, K, Westeneng, H, Tazelaar, G, van Eijk, K, Kooyman, M, Byrne, R, Doherty, M, Heverin, M, Al Khleifat, A, Iacoangeli, A, Shatunov, A, Ticozzi, N, Cooper-Knock, J, Smith, B, Gromicho, M, Chandran, S, Pal, S, Morrison, K, Shaw, P, Hardy, J, Orrell, R, Sendtner, M, Meyer, T, Basak, N, van der Kooi, A, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, D'Alfonso, S, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, A, Calvo, A, Moglia, C, Brunetti, M, Canosa, A, Grassano, M, Beghi, E, Pupillo, E, Logroscino, G, Nefussy, B, Osmanovic, A, Nordin, A, Lerner, Y, Zabari, M, Gotkine, M, Baloh, R, Bell, S, Vourc'H, P, Corcia, P, Couratier, P, Millecamps, S, Meininger, V, Salachas, F, Mora Pardina, J, Assialioui, A, Rojas-Garcia, R, Dion, P, Ross, J, Ludolph, A, Weishaupt, J, Brenner, D, Freischmidt, A, Bensimon, G, Brice, A, Durr, A, Payan, C, Saker-Delye, S, Wood, N, Topp, S, Rademakers, R, Tittmann, L, Lieb, W, Franke, A, Ripke, S, Braun, A, Kraft, J, Whiteman, D, Olsen, C, Uitterlinden, A, Hofman, A, Rietschel, M, Cichon, S, Nothen, M, Amouyel, P, Traynor, B, Singleton, A, Mitne Neto, M, Cauchi, R, Ophoff, R, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, V, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, O, Steinbach, R, Hubner, C, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, I, Kiernan, M, Benyamin, B, Henderson, R, Furlong, S, Mathers, S, Mccombe, P, Needham, M, Ngo, S, Nicholson, G, Pamphlett, R, Rowe, D, Steyn, F, Williams, K, Mather, K, Sachdev, P, Henders, A, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, G, Silani, V, Curtis, C, Breen, G, Glass, J, Brown, R, Landers, J, Shaw, C, Andersen, P, Groen, E, van Es, M, Pasterkamp, R, Fan, D, Garton, F, Mcrae, A, Davey Smith, G, Gaunt, T, Eberle, M, Mill, J, Mclaughlin, R, Hardiman, O, Kenna, K, Wray, N, Tsai, E, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, L, Veldink, J, Ferrarese, C, Neurology, ANS - Neuroinfection & -inflammation, APH - Methodology, APH - Quality of Care, EURO-NMD, Internal Medicine, Epidemiology, Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), van Rheenen, W., Van der Spek, R.A.A., Bakker, M.K., van Vugt, J.J.F.A., Hop, P.J., Zwamborn, R.A.J., de Klein, N., Westra, H.J., Bakker, O.B., Deelen, P., Shireby, G., Hannon, E., Moisse, M., Baird, D., Restuadi, R., Dolzhenko, E., Dekker, A.M., Gawor, K., Westeneng, H.J., Tazelaar, G.H.P., van Eijk, K.R., Kooyman, M., Byrne, R.P., Doherty, M., Heverin, M., Al Khleifat, A., Iacoangeli, A., Shatunov, A., Ticozzi, N., Cooper-Knock, J., Smith, B.N., Gromicho, M., Chandran, S., Pal, S., Morrison, K.E., Shaw, P.J., Hardy, J., Orrell, R.W., Sendtner, M., Meyer, T., van der Kooi, A.J., Ratti, A., Fogh, I., Gellera, C., Lauria, G., Corti, S., Cereda, C., Sproviero, D., D'Alfonso, S., Sorarù, G., Siciliano, G., Filosto, M., Padovani, A., Chiò, A., Calvo, A., Moglia, C., Brunetti, M., Canosa, A., Grassano, M., Beghi, E., Pupillo, E., Logroscino, G., Nefussy, B., Osmanovic, A., Nordin, A., Lerner, Y., Zabari, M., Gotkine, M., Baloh, R.H., Bell, S., Vourc'h, P., Corcia, P., Couratier, P., Millecamps, S., Meininger, V., Salachas, F., Mora Pardina, J.S., Assialioui, A., Rojas-García, R., Dion, P.A., Ross, J.P., Ludolph, A.C., Weishaupt, J.H., Brenner, D., Freischmidt, A., Bensimon, G., Brice, A., Durr, A., Payan, C.A.M., Saker-Delye, S., Wood, N.W., Topp, S., Rademakers, R., Tittmann, L., Lieb, W., Franke, A., Ripke, S., Kraft, J.,Whiteman, David C., Olsen, Catherine M., Uitterlinden, A.G., Hofman, A., Rietschel, M., Cichon, S., Nothen, M.M., Amouyel, P., Comi, G., Riva, N., Lunetta, C., Gerardi, F., Cotelli, M.S., Rinaldi, F., Chiveri, L., Guaita, M.C., Perrone, P., Ceroni, M., Diamanti, L., Ferrarese, C., Tremolizzo, L., Delodovici, M.L., Bono, G., Manera, U., Vasta, R., Bombaci, A., Casale, F., Fuda, G., Salamone, P., Iazzolino, B., Peotta, L., Cugnasco, P., De Marco, G., Torrieri, M.C., Palumbo, F., Gallone, S., Barberis, M., Sbaiz, L., Gentile, S., Mauro, A., Mazzini, L., De Marchi, F., Corrado, L., Bertolotto, A., Gionco, M., Leotta, D., Odddenino, E., Imperiale, D., Cavallo, R., Pignatta, P., De Mattei, M., Geda, C., Papurello, D.M., Gusmaroli, G., Comi, C., Labate, C., Ruiz, L., Ferrandi, D., Rota, E., Aguggia, M., Di Vito, N., Meineri, P., Ghiglione, P., Launaro, N., Dotta, M., Di Sapio, A., Giardini, G., Tiloca, C., Peverelli, S., Taroni, F., Pensato, V., Castellotti, B., Comi, G.P., Del Bo, R., Gagliardi, S., Raggi, F., Simoncini, C., Lo Gerfo, A., Inghilleri, M., Ferlini, A., Simone, I.L., Passarella, B., Guerra, V., Zoccolella, S., Nozzoli, C., Mundi, C., Leone, M., Zarrelli, M., Tamma, F., Valluzzi, F., Calabrese, G., Boero, G., Rini, A., Traynor, B.J., Singleton, A.B., Neto, M.M., Cauchi, R.J., Ophoff, R.A., Wiedau-Pazos, M., Lomen-Hoerth, C., van Deerlin, V.M., Grosskreutz, J., Roediger, A., Gaur, N., Jork, A., Barthel, T., Theele, E., Ilse, B., Stubendorff, B., Witte, O.W., Steinbach, R., Hubner, C.A., Graff, C., Brylev, L., Fominykh, V., Demeshonok, V., Ataulina, A., Rogelj, B., Koritnik, B., Zidar, J., Ravnik-Glavac, M., Glavac, D., Stevic, Z., Drory, V., Povedano, M., Blair, I.P., Kiernan, M.C., Benyamin, B., Henderson, R.D., Furlong, S., Mathers, S., McCombe, P.A, Needham, M., Ngo, S.T., Nicholson, G.A., Pamphlett, R., Rowe, D.B., Steyn, F.J., Williams, K.L., Mather, K.A., Sachdev, P.S., Henders, A.K., Wallace, L., de Carvalho, M., Pinto, S., Petri, S., Weber, M., Rouleau, G.A., Silani, V., Curtis, C.J., Breen, G., Glass, J.D., Brown, R.H., Landers, J.E., Shaw, C.E., Andersen, P.M., Groen, E.J.N, van Es, M.A., Pasterkamp, R.J., Fan, D.S., Garton, F.C., McRae, A.F., Smith, G.D., Gaunt, T.R., Eberle, M.A., Mill, J., McLaughlin, R.L., Hardiman, O., Kenna, K.P., Wray, N.R., Tsai, E.L., Runz, H., Franke, L., Al-Chalabi, A., Van Damme, P., van den Berg, L.H., Veldink, J.H., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine
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Male ,Genetics and heredity ,amyotrophic lateral sclerosis ,Neurologi ,Glutamine ,Medizin ,Genome-wide association study ,Disease ,SUSCEPTIBILITY ,Genome-wide association studies ,DISEASE ,Genètica mèdica ,0302 clinical medicine ,neurodegenerative disease ,genome-wide association study ,ALS, gene ,autophagy ,Risk Factors ,amyotrophic lateral sclerosi ,RNA-Seq ,Amyotrophic lateral sclerosis ,disease-modifying therapies ,blood [Cholesterol] ,Genetics ,Genetics & Heredity ,Neurons ,0303 health sciences ,Medical genetics ,Neurodegenerative diseases ,Genome-wide association ,Mendelian randomization ,Frontotemporal dementia ,Hexanucleotide repeat ,Mutant SOD1 ,Metaanalysis ,ALS ,Susceptibility ,Identification ,Brain ,Amyotrophic Lateral Sclerosis ,Cholesterol ,Disease Progression ,Female ,Humans ,Mendelian Randomization Analysis ,Microsatellite Repeats ,Neurodegenerative Diseases ,Quantitative Trait Loci ,Genome-Wide Association Study ,Mutation ,MUTANT SOD1 ,genetics [Amyotrophic Lateral Sclerosis] ,medicine.anatomical_structure ,Neurology ,risk factor ,metabolism [Neurons] ,MENDELIAN RANDOMIZATION ,nerve cell ,Life Sciences & Biomedicine ,quantitative trait locu ,Biology ,03 medical and health sciences ,Amyotrophic lateral sclerosis -- Diagnosis ,blood ,ddc:570 ,medicine ,degenerative disease ,Motor neuron disease ,human ,Genomes ,GENOME-WIDE ASSOCIATION ,gene ,Gene ,metabolism [Glutamine] ,METAANALYSIS ,030304 developmental biology ,Mendelian randomization analysi ,Science & Technology ,HEXANUCLEOTIDE REPEAT ,meta analysi ,IDENTIFICATION ,metabolism [Amyotrophic Lateral Sclerosis] ,FRONTOTEMPORAL DEMENTIA ,medicine.disease ,metabolism [Brain] ,genetics [Neurodegenerative Diseases] ,Expression quantitative trait loci ,disease exacerbation ,Neuron ,gemone ,genetic ,Vesicle-mediated transport ,metabolism ,Nervous system -- Degeneration ,Esclerosi lateral amiotròfica ,030217 neurology & neurosurgery - Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons., Dutch Research Council (NWO); VENI Scheme Grant; VIDI Grant; Prinses Beatrix Spierfonds; Neuromuscular Fellowship Grant; Medical Research Council (MRC); Clinical Infrastructure Award; Epidemiology Unit; Integrative Epidemiology Unit; Canadian Institutes of Health Research; IWT; National Institute on Aging; National Health and Medical Research Council (NHMRC); Enabling Grant; NHMRC/Australian Research Council Strategic Award; NHMRC; NHMRC Centre of Research Excellence Grant; National Health and Medical Research Council of Australia (NHMRC) Research Fellowship; United Kingdom, Medical Research Council; Economic and Social Research Council; European Union (EU); Horizon 2020; European Community's Health Seventh Framework Programme; EuroMOTOR; European Research Council (ERC); Research and Innovation Programme; EScORIAL; ALS Foundation Netherlands; Alzheimer’s Society PhD Studentship; ARSla Funding; Biogen; University of Bristol; Motor Neurone Disease Association (MNDA); NIHR Maudsley Biomedical Research Centre; Dutch Ministry of Education, Culture, and Science; Netherlands Organization for Scientific Research (NWO; BRAINSCAPES); Gravitation Program; ALS Liga België; National Lottery of Belgium; KU Leuven Opening the Future Fund; KU Leuven Funds, “Een Hart voor ALS”, “Laeversfonds voor ALS Onderzoek” and the “Valéry Perrier Race against ALS Fund”; E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders; ALS Liga België; “Live now” Charity Foundation; Moscow ALS palliative Care Service; Canadian Institutes of Health; Research Australia; Ice Bucket Challenge Grant; NIH Intramural Research Programs; FightMND Mid-Career Fellowship; NIHR Senior Investigator; Sheffield NIHR Biomedical Research Centre; Motor Neurone Disease Association; National Institute for Health Research (NIHR) Biomedical Research Centre; Maudsley NHS Foundation Trust; King’s College London; NIHR Senior Investigator Award; Netherlands Organization for Health Research and Development; Vici Scheme; Netherlands Organization for Health Research and Development STRENGTH Project; PPP Allowance
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- 2021
34. Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients
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Osmanovic, Alma, primary, Gogol, Isabel, additional, Martens, Helge, additional, Widjaja, Maylin, additional, Müller, Kathrin, additional, Schreiber-Katz, Olivia, additional, Feuerhake, Friedrich, additional, Langhans, Claus-Dieter, additional, Schmidt, Gunnar, additional, Andersen, Peter M., additional, Ludolph, Albert C., additional, Weishaupt, Jochen H., additional, Brand, Frank, additional, Petri, Susanne, additional, and Weber, Ruthild G., additional
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- 2021
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35. Glial Fibrillary Acidic Protein in Cerebrospinal Fluid of Nusinersen-Treated Patients with Spinal Muscular Atrophy
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Freigang, Maren, primary, Steinacker, Petra, additional, Wurster, Claudia Diana, additional, Schreiber-Katz, Olivia, additional, Osmanovic, Alma, additional, Petri, Susanne, additional, Koch, Jan Christoph, additional, Rostásy, Kevin, additional, Falkenburger, Björn, additional, Ludolph, Albert Christian, additional, Otto, Markus, additional, Hermann, Andreas, additional, and Günther, René, additional
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- 2021
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36. An unusual presentation of Huntington’s disease
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Schulze Westhoff, Martin, primary, Osmanovic, Alma, additional, Meissner, Catharina, additional, Heck, Johannes, additional, Mahmoudi, Nima, additional, Hendrich, Corinna, additional, Berding, Georg, additional, Seifert, Johanna, additional, Bleich, Stefan, additional, Frieling, Helge, additional, Krüger, Tillmann, additional, and Groh, Adrian, additional
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- 2021
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37. Treatment expectations and perception of therapy in adult patients with spinal muscular atrophy receiving nusinersen
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Meyer, Thomas, primary, Maier, André, additional, Uzelac, Zeljko, additional, Hagenacker, Tim, additional, Günther, René, additional, Schreiber‐Katz, Olivia, additional, Weiler, Markus, additional, Steinbach, Robert, additional, Weyen, Ute, additional, Koch, Jan Christoph, additional, Kettemann, Dagmar, additional, Norden, Jenny, additional, Dorst, Johannes, additional, Wurster, Claudia, additional, Ludolph, Albert C., additional, Stolte, Benjamin, additional, Freigang, Maren, additional, Osmanovic, Alma, additional, Petri, Susanne, additional, Grosskreutz, Julian, additional, Rödiger, Annekathrin, additional, Griep, Ramona, additional, Gaudlitz, Marcel, additional, Walter, Bertram, additional, Münch, Christoph, additional, and Spittel, Susanne, additional
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- 2021
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38. Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives
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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
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- 2021
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39. Increased Chitotriosidase1 Concentration Following Nusinersen Treatment in Spinal Muscular Atrophy
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Freigang, Maren, primary, Steinacker, Petra, additional, Wurster, Claudia Diana, additional, Schreiber-Katz, Olivia, additional, Osmanovic, Alma, additional, Petri, Susanne, additional, Koch, Jan Christoph, additional, Rostásy, Kevin, additional, Falkenburger, Björn, additional, Ludolph, Albert Christian, additional, Otto, Markus, additional, Hermann, Andreas, additional, and Günther, René, additional
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- 2021
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40. Additional file 2 of Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy
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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, and Günther, René
- Abstract
Additional file 2: Table S2. Correlation between CSF CHIT1 level and age/disease severity scores in nusinersen-naïve patients with SMA. CHIT1 Chitotriosidase 1 concentration, CSF cerebrospinal fluid, HFMSE Hammersmith functional. Motor Scale Expanded; RULM Revised upper limb module, ALSFRS-R revised ALS functional. Rating Scale; n.s. not significant, ρ partial rank correlation coefficient corrected for patients’ height.
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- 2021
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41. sj-pdf-1-tan-10.1177_1756286421998902 – Supplemental material for Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy
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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
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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
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- 2021
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42. Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)
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Mix, Lucas John, Schreiber���Katz, Olivia, Wurster, Claudia D., Uzelac, Zeljko, Platen, Sophia, Gipperich, Christina, Ranxha, Gresa, Wieselmann, Gary, Osmanovic, Alma, Ludolph, Albert C., Petri, Susanne, and Lul��, Doroth��e
- Subjects
Adult ,Hammersmith functional motor scale expanded (HFMSE) ,Research ,lcsh:R ,lcsh:Medicine ,Cognitive adaptation ,Spinal Muscular Atrophies of Childhood ,Spinal muscular atrophy ,Social cognition ,Muscular Atrophy, Spinal ,Executive Function ,Cognition ,Cross-Sectional Studies ,Spinale Muskelatrophie ,Humans ,Edinburgh cognitive and behavioural ALS screen (ECAS) ,ddc:610 ,SMA ,Reading the mind in the eyes test ,Child ,DDC 610 / Medicine & health ,Kognition - Abstract
Background: Spinal muscular atrophy (SMA) issues from mutations in the survival of motor neuron (SMN) 1 gene. Loss or reduction of the SMN protein results in progressive muscle weakness. Whether this protein deficiency also affects cortical function remains unclear. While no data on adult patients exists so far, prior studies in children with SMA indicate cognitive abilities equal or even superior to healthy controls. This may suggest a possible compensatory���neuropsychological and interactional���process. The goal of this study was to assess the cognitive profile of adult patients with SMA, with a special focus on social cognition as a potential candidate for enhanced cognitive function through compensatory processes. Methods: In a cross-sectional design, N = 31 adult SMA patients (types II and III) were assessed for language, verbal fluency, memory, visuospatial abilities and executive function with the Edinburgh Cognitive and Behavioural ALS Screen and for social cognition with the Reading the Mind in the Eyes Test. Physical function was evaluated using the Hammersmith Functional Motor Scale Expanded. N = 19 neurologically healthy controls were matched with patients for age, sex and years of education. Results: In none of the abovementioned cognitive domains significant differences between SMA patients and controls were found. Among patients, no differences between type II SMA and type III SMA were detected for any domain. However, a trend towards better social cognition in patients with type II SMA, compared to those with type III SMA was observed. Furthermore, a significant inverse correlation of physical function and executive function was detected: lower motor function was associated with a better executive function. Conclusions: This study shows cognitive abilities in adult SMA in the normal range for all assessed domains. Thus, reduction of SMN protein has no obvious negative impact on cognitive function. Executive functions are identified as the only cognitive domain correlated with disease severity. Therefore, executive functions may play a role in the adaptation to physical restrictions in SMA, making them a promising target for future research., publishedVersion
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- 2021
43. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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van Rheenen, Wouter, van der Spek, Rick A A, Shireby, Gemma, Whiteman, David C, Olsen, Catherine M, Uitterlinden, Andre G, Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Consortium, SLALOM, Consortium, PARALS, Hannon, Eilis, Consortium, SLAGEN, Consortium, SLAP, Traynor, Bryan J, Singleton, Andrew B, Mitne Neto, Miguel, Cauchi, Ruben J, Ophoff, Roel A, Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M, Moisse, Matthieu, Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W, Steinbach, Robert, Baird, Denis, Hübner, Christian A, Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Restuadi, Restuadi, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P, Kiernan, Matthew C, Benyamin, Beben, Henderson, Robert D, Furlong, Sarah, Mathers, Susan, Dolzhenko, Egor, McCombe, Pamela A, Needham, Merrilee, Ngo, Shyuan T, Nicholson, Garth A, Pamphlett, Roger, Rowe, Dominic B, Steyn, Frederik J, Williams, Kelly L, Mather, Karen A, Sachdev, Perminder S, Dekker, Annelot M, Henders, Anjali K, Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A, Silani, Vincenzo, Curtis, Charles J, Breen, Gerome, Gawor, Klara, Glass, Jonathan D, Brown, Robert H, Landers, John E, Shaw, Christopher E, Andersen, Peter M, Groen, Ewout J N, van Es, Michael A, Pasterkamp, R Jeroen, Fan, Dongsheng, Garton, Fleur C, Westeneng, Henk-Jan, McRae, Allan F, Davey Smith, George, Gaunt, Tom R, Eberle, Michael A, Mill, Jonathan, McLaughlin, Russell L, Hardiman, Orla, Kenna, Kevin P, Wray, Naomi R, Tsai, Ellen, Tazelaar, Gijs H P, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H, Veldink, Jan H, Comi, Giancarlo, Riva, Nilo, Lunetta, Christian, Gerardi, Francesca, Bakker, Mark K, van Eijk, Kristel R, Cotelli, Maria Sofia, Rinaldi, Fabrizio, Chiveri, Luca, Guaita, Maria Cristina, Perrone, Patrizia, Ceroni, Mauro, Diamanti, Luca, Ferrarese, Carlo, Tremolizzo, Lucio, Delodovici, Maria Luisa, Kooyman, Maarten, Bono, Giorgio, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Casale, Federico, Fuda, Giuseppe, Salamone, Paolina, Iazzolino, Barbara, Peotta, Laura, Byrne, Ross P, Cugnasco, Paolo, De Marco, Giovanni, Torrieri, Maria Claudia, Palumbo, Francesca, Gallone, Salvatore, Barberis, Marco, Sbaiz, Luca, Gentile, Salvatore, Mauro, Alessandro, Mazzini, Letizia, Doherty, Mark, De Marchi, Fabiola, Corrado, Lucia, D'Alfonso, Sandra, Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Odddenino, Enrico, Imperiale, Daniele, Cavallo, Roberto, Pignatta, Pietro, Heverin, Mark, De Mattei, Marco, Geda, Claudio, Papurello, Diego Maria, Gusmaroli, Graziano, Comi, Cristoforo, Labate, Carmelo, Ruiz, Luigi, Ferrandi, Delfina, Rota, Eugenia, Aguggia, Marco, Al Khleifat, Ahmad, Di Vito, Nicoletta, Meineri, Piero, Ghiglione, Paolo, Launaro, Nicola, Dotta, Michele, Di Sapio, Alessia, Giardini, Guido, Tiloca, Cinzia, Peverelli, Silvia, Taroni, Franco, Iacoangeli, Alfredo, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P, Del Bo, Roberto, Gagliardi, Stella, Raggi, Flavia, Simoncini, Costanza, Shatunov, Aleksey, Lo Gerfo, Annalisa, Inghilleri, Maurizio, Ferlini, Alessandra, Simone, Isabella L, Passarella, Bruno, Guerra, Vito, Zoccolella, Stefano, Nozzoli, Cecilia, Mundi, Ciro, Leone, Maurizio, Ticozzi, Nicola, Zarrelli, Michele, Tamma, Filippo, Valluzzi, Francesco, Calabrese, Gianluigi, Boero, Giovanni, Rini, Augusto, Cooper-Knock, Johnathan, van Vugt, Joke J F A, Smith, Bradley N, Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Sendtner, Michael, Meyer, Thomas, Hop, Paul J, Başak, Nazli, van der Kooi, Anneke J, Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, Zwamborn, Ramona A J, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Grassano, Maurizio, de Klein, Niek, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H, Westra, Harm-Jan, Bell, Shaughn, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S, Assialioui, Abdelilah, Rojas-García, Ricardo, Bakker, Olivier B, Dion, Patrick A, Ross, Jay P, Ludolph, Albert, Weishaupt, Jochen H, Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Dürr, Alexandra, Payan, Christine A M, Deelen, Patrick, Saker-Delye, Safa, Wood, Nicholas W, Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, and Kraft, Julia
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ddc:570 ,Genetics ,Medizin - Abstract
In the version of this article initially published, the affiliation for Nazli Başak appeared incorrectly. Nazli Başak is at Koç University, School of Medicine, KUTTAM-NDAL, Istanbul, Turkey, and not Bogazici University. The error has been corrected in the HTML and PDF versions of the article.
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- 2021
44. Additional file 1 of Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy
- Author
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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, and Günther, René
- Abstract
Additional file 1: Table S1. Subgroup characteristics. IQR interquartile range.
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- 2021
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45. Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives
- Author
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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, 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, and Schreiber-Katz, Olivia
- Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that causes progressive autonomy loss and need for care. This does not only affect patients themselves, but also the patients’ informal caregivers (CGs) in their health, personal and professional lives. The big efforts of this multi-center study were not only to evaluate the caregivers’ burden and to identify its predictors, but it also should provide a specific understanding of the needs of ALS patients’ CGs and fill the gap of knowledge on their personal and work lives. Using standardized questionnaires, primary data from patients and their main informal CGs (n = 249) were collected. Patients’ functional status and disease severity were evaluated using the Barthel Index, the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) and the King’s Stages for ALS. The caregivers’ burden was recorded by the Zarit Burden Interview (ZBI). Comorbid anxiety and depression of caregivers were assessed by the Hospital Anxiety and Depression Scale. Additionally, the EuroQol Five Dimension Five Level Scale evaluated their health-related quality of life. The caregivers’ burden was high (mean ZBI = 26/88, 0 = no burden, ≥24 = highly burdened) and correlated with patients’ functional status (rp = −0.555, p < 0.001, n = 242). It was influenced by the CGs’ own mental health issues due to caregiving (+11.36, 95% CI [6.84; 15.87], p < 0.001), patients’ wheelchair dependency (+9.30, 95% CI [5.94; 12.66], p < 0.001) and was interrelated with the CGs’ depression (rp = 0.627, p < 0.001, n = 234), anxiety (rp = 0.550, p < 0.001, n = 234), and poorer physical condition (rp = −0.362, p < 0.001, n = 237). Moreover, female CGs showed symptoms of anxiety more often, which also correlated with the patients’ impairment in daily routine (rs = −0.280, p < 0.001, n = 169). As increasing disease severity, along with decreasing autonomy, was the main predictor of caregiver burden and showed to create relevant (ne
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- 2021
46. Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
- Author
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Rheenen, Wouter van, primary, Spek, Rick van der, additional, Bakker, Mark, additional, Berg, Leonard van den, additional, Veldink, Jan, additional, Vugt, Joke van, additional, Hop, Paul, additional, Zwamborn, Ramona, additional, de Klein, Niek, additional, Westra, Harm-Jan, additional, Bakker, Olivier, additional, Deelen, Patrick, additional, Shireby, Gemma, additional, Hannon, Eilis, additional, Moisse, Matthieu, additional, Baird, Denis, additional, Restuadi, Restuadi, additional, Dolzhenko, Egor, additional, Dekker, Annelot, additional, Gawor, Klara, additional, Westeneng, Henk-Jan, additional, Tazelaar, Gijs, additional, Eijk, Kristel van, additional, Kooyman, Maarten, additional, Byrne, Ross, additional, Doherty, Mark, additional, Heverin, Mark, additional, Khleifat, Ahmad Al, additional, Iacoangeli, Alfredo, additional, Shatunov, Aleksey, additional, Ticozzi, Nicola, additional, Cooper-Knock, Johnathan, additional, Smith, Bradley, additional, Gromicho, Marta, additional, Chandran, Siddharthan, additional, Pal, Suvankar, additional, Morrison, Karen, additional, Shaw, Pamela, additional, Hardy, John, additional, Orrell, Richard, additional, Sendtner, Michael, additional, Meyer, Thomas, additional, Basak, Nazli, additional, Kooi, Anneke van der, additional, Ratti, Antonia, additional, Fogh, Isabella, additional, Gellera, Cinzia, additional, Pinter, Guiseppe Lauria, additional, Corti, Stefania, additional, Cereda, Cristina, additional, Sproviero, Daisy, additional, D'Alfonso, Sandra, additional, Soraru, Gianni, additional, Siciliano, Gabriele, additional, Filosto, Massimiliano, additional, Padovani, Alessandro, additional, Chio, Adriano, additional, Calvo, Andrea, additional, Moglia, Cristina, additional, Brunetti, Maura, additional, Canosa, Antonio, additional, Grassano, Maurizio, additional, Beghi, Ettore, additional, Pupillo, Elisabetta, additional, Logroscino, Giancarlo, additional, Nefussy, Beatrice, additional, Osmanovic, Alma, additional, Nordin, Angelica, additional, Lerner, Yossef, additional, Zabari, Michal, additional, Gotkine, Marc, additional, Baloh, Robert, additional, Bell, Shaugn, additional, Vourc'h, Patrick, additional, Corcia, Philippe, additional, Couratier, Philippe, additional, Millecamps, Stephanie, additional, Meininger, Vincent, additional, Salachas, Francois, additional, Pardina, Jesus Mora, additional, Assialioui, Abdelilah, additional, Rojas-García, Ricardo, additional, Dion, Patrick, additional, Ross, Jay, additional, Ludolph, Albert, additional, Weishaupt, Jochen, additional, Brenner, David, additional, Freischmidt, Axel, additional, Bensimon, Gilbert, additional, Brice, Alexis, additional, Durr, Alexandra, additional, Payan, Christine, additional, Saker-Delye, Safa, additional, Wood, Nicholas, additional, Topp, Simon, additional, Rademakers, Rosa, additional, Tittmann, Lukas, additional, Lieb, Wolfgang, additional, Franke, Andre, additional, Ripke, Stephan, additional, Braun, Alice, additional, Kraft, Julia, additional, Whiteman, David, additional, Olsen, Catherine, additional, Uitterlinden, André, additional, Hofman, Albert, additional, Rietschel, Marcella, additional, Cichon, Sven, additional, Nöthen, Markus, additional, Amouyel, Philippe, additional, Traynor, Bryan, additional, Singleton, Andrew, additional, Neto, Miguel Mitne, additional, Cauchi, Ruben, additional, Ophoff, Roel, additional, Wiedau-Pazos, Martina, additional, Lomen-Hoerth, Catherine, additional, Deerlin, Vivianna Van, additional, Grosskreutz, Julian, additional, Rödiger, Annekathrin, additional, Jörk, Alexander, additional, Barthel, Tabea, additional, Theele, Erik, additional, Ilse, Berjamin, additional, Stubendorff, Beatrice, additional, Witte, Otto, additional, Steinbach, Robert, additional, Hübner, Christian, additional, Graff, Caroline, additional, Brylev, Lev, additional, Fominykh, Vera, additional, Demeshonok, Vera, additional, Ataulina, Anastasia, additional, Rogelj, Boris, additional, Koritnik, Blaž, additional, Zidar, Janez, additional, Ravnik-Glavač, Metka, additional, Glavač, Damjan, additional, Stević, Zorica, additional, Drory, Vivian, additional, Povedano, Mónica, additional, Blair, Ian, additional, Kiernan, Matthew, additional, Benyamin, Beben, additional, Henderson, Robert, additional, Furlong, Sarah, additional, Mathers, Susan, additional, McCombe, Pamela, additional, Needham, Merrilee, additional, Ngo, Shyuan, additional, Nicholson, Garth, additional, Pamphlett, Roger, additional, Rowe, Dominic, additional, Steyn, Frederik, additional, Williams, Kelly, additional, Mather, Karen, additional, Sachdev, Perminder, additional, Henders, Anjali, additional, Wallace, Leanne, additional, de Carvalho, Mamede, additional, Pinto, Susana, additional, Petri, Susanne, additional, Weber, Markus, additional, Rouleau, Guy, additional, Silani, Vincenzo, additional, Curtis, Charles, additional, Breen, Gerome, additional, Glass, Jonathan, additional, Brown, Robert, additional, Landers, John, additional, Shaw, Christopher, additional, Andersen, Peter, additional, Groen, Ewout, additional, Es, Michael van, additional, Pasterkamp, Jeroen, additional, Fan, Dongsheng, additional, Garton, Fleur, additional, McRae, Allan, additional, Smith, George Davey, additional, Gaunt, Tom, additional, Eberle, Michael, additional, Mill, Jonathan, additional, McLaughlin, Russell, additional, Hardiman, Orla, additional, Kenna, Kevin, additional, Wray, Naomi, additional, Tsai, Ellen, additional, Runz, Heiko, additional, Franke, Lude, additional, Al-Chalabi, Ammar, additional, Damme, Philip Van, additional, and Gaur, Nayana, additional
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- 2021
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47. A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany
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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
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- 2021
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48. Nusinersen Wearing-Off in Adult 5q-Spinal Muscular Atrophy Patients
- Author
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Osmanovic, Alma, primary, Schreiber-Katz, Olivia, additional, and Petri, Susanne, additional
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- 2021
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49. Cerebrospinal Fluid Parameters in Antisense Oligonucleotide-Treated Adult 5q-Spinal Muscular Atrophy Patients
- Author
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Müschen, Lars Hendrik, primary, Osmanovic, Alma, additional, Binz, Camilla, additional, Jendretzky, Konstantin F., additional, Ranxha, Gresa, additional, Bronzlik, Paul, additional, Abu-Fares, Omar, additional, Wiehler, Flavia, additional, Möhn, Nora, additional, Hümmert, Martin W., additional, Gingele, Stefan, additional, Götz, Friedrich, additional, Stangel, Martin, additional, Skripuletz, Thomas, additional, Schreiber-Katz, Olivia, additional, and Petri, Susanne, additional
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- 2021
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50. Additional file 1 of Costs of illness in amyotrophic lateral sclerosis (ALS): a cross-sectional survey in Germany
- Author
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Schönfelder, Erik, Osmanovic, Alma, Müschen, Lars Hendrik, Petri, Susanne, and Schreiber-Katz, Olivia
- Subjects
Data_GENERAL ,Data_MISCELLANEOUS ,Data_FILES - Abstract
Additional file 1. Further details on the utilisation of medical resources.
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- 2020
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