Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Czibere, Ludwig, Durner, Jürgen, Eggermann, Katja, Olgemöller, Bernhard, Harms, Erik, Schara, Ulrike, Kölbel, Heike, Müller-Felber, Wolfgang
Published in Orphanet journal of rare diseases (31.03.2021)
Published in Orphanet journal of rare diseases (31.03.2021)
Get full text
Journal Article
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis
Park, Julien H, Elpers, Christiane, Reunert, Janine, McCormick, Michael L, Mohr, Julia, Biskup, Saskia, Schwartz, Oliver, Rust, Stephan, Grüneberg, Marianne, Seelhöfer, Anja, Schara, Ulrike, Boltshauser, Eugen, Spitz, Douglas R, Marquardt, Thorsten
Published in Brain (London, England : 1878) (01.08.2019)
Published in Brain (London, England : 1878) (01.08.2019)
Get full text
Journal Article
Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
Hahn, Andreas, Günther, René, Ludolph, Albert, Schwartz, Oliver, Trollmann, Regina, Weydt, Patrick, Weiler, Markus, Neuland, Kathrin, Schwaderer, Martin Sebastian, Hagenacker, Tim
Published in Orphanet journal of rare diseases (19.07.2022)
Published in Orphanet journal of rare diseases (19.07.2022)
Get full text
Journal Article
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Olbrich, Heike, Cremers, Carolin, Loges, Niki T., Werner, Claudius, Nielsen, Kim G., Marthin, June K., Philipsen, Maria, Wallmeier, Julia, Pennekamp, Petra, Menchen, Tabea, Edelbusch, Christine, Dougherty, Gerard W., Schwartz, Oliver, Thiele, Holger, Altmüller, Janine, Rommelmann, Frank, Omran, Heymut
Published in American journal of human genetics (01.10.2015)
Published in American journal of human genetics (01.10.2015)
Get full text
Journal Article
One Year of Newborn Screening for SMA – Results of a German Pilot Project
Vill, Katharina, Kölbel, Heike, Schwartz, Oliver, Blaschek, Astrid, Olgemöller, Bernhard, Harms, Erik, Burggraf, Siegfried, Röschinger, Wulf, Durner, Jürgen, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Schara, Ulrike, Jensen, Beate, Becker, Marc, Hohenfellner, Katharina, Müller-Felber, Wolfgang
Published in Journal of neuromuscular diseases (01.01.2019)
Published in Journal of neuromuscular diseases (01.01.2019)
Get full text
Journal Article
Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
Hahn, Andreas, Günther, René, Ludolph, Albert, Schwartz, Oliver, Trollmann, Regina, Weydt, Patrick, Weiler, Markus, Neuland, Kathrin, Schwaderer, Martin Sebastian, Hagenacker, Tim
Published in Orphanet journal of rare diseases (25.10.2022)
Published in Orphanet journal of rare diseases (25.10.2022)
Get full text
Journal Article
Nuclear restriction of HIV-1 infection by SUN1
Persaud, Mirjana, Selyutina, Anastasia, Buffone, Cindy, Opp, Silvana, Donahue, Daniel A., Schwartz, Oliver, Diaz-Griffero, Felipe
Published in Scientific reports (27.09.2021)
Published in Scientific reports (27.09.2021)
Get full text
Journal Article
Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening
Kölbel, Heike, Modler, Laura, Blaschek, Astrid, Schara-Schmidt, Ulrike, Vill, Katharina, Schwartz, Oliver, Müller-Felber, Wolfgang
Published in Children (Basel) (26.11.2022)
Published in Children (Basel) (26.11.2022)
Get full text
Journal Article
L-Fucose treatment of FUT8-CDG
Park, Julien H., Reunert, Janine, He, Miao, Mealer, Robert G., Noel, Maxence, Wada, Yoshinao, Grüneberg, Marianne, Horváth, Judit, Cummings, Richard D., Schwartz, Oliver, Marquardt, Thorsten
Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
Get full text
Journal Article
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG)
Kemme, Lisa, Grüneberg, Marianne, Reunert, Janine, Rust, Stephan, Park, Julien, Westermann, Cordula, Wada, Yoshinao, Schwartz, Oliver, Marquardt, Thorsten
Published in JIMD reports (01.07.2021)
Published in JIMD reports (01.07.2021)
Get full text
Journal Article
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing
Diebold, Isabel, Schön, Ulrike, Horvath, Rita, Schwartz, Oliver, Holinski-Feder, Elke, Kölbel, Heike, Abicht, Angela
Published in Molecular and cellular probes (01.04.2019)
Published in Molecular and cellular probes (01.04.2019)
Get full text
Journal Article
Seizures associated with antibodies against cell surface antigens are acute symptomatic and not indicative of epilepsy: insights from long-term data
Rada, Anna, Birnbacher, Robert, Gobbi, Claudio, Kurthen, Martin, Ludolph, Albert, Naumann, Markus, Neirich, Ulrike, von Oertzen, Tim J., Ransmayr, Gerhard, Riepe, Matthias, Schimmel, Mareike, Schwartz, Oliver, Surges, Rainer, Bien, Christian G.
Published in Journal of neurology (01.03.2021)
Published in Journal of neurology (01.03.2021)
Get full text
Journal Article
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
Pechmann, Astrid, Langer, Thorsten, Schorling, David, Stein, Sabine, Vogt, Sibylle, Schara, Ulrike, Kölbel, Heike, Schwartz, Oliver, Hahn, Andreas, Giese, Kerstin, Johannsen, Jessika, Denecke, Jonas, Weiß, Claudia, Theophil, Manuela, Kirschner, Janbernd
Published in Journal of neuromuscular diseases (2018)
Published in Journal of neuromuscular diseases (2018)
Get full text
Journal Article
Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia
Hjeij, Rim, Aprea, Isabella, Poeta, Marco, Nöthe-Menchen, Tabea, Bracht, Diana, Raidt, Johanna, Honecker, Barbara I., Dougherty, Gerard W., Olbrich, Heike, Schwartz, Oliver, Keller, Ulrike, Nüsse, Harald, Diderich, Karin E.M., Vogelberg, Christian, Santamaria, Francesca, Omran, Heymut
Published in Genetics in medicine (01.05.2023)
Published in Genetics in medicine (01.05.2023)
Get full text
Journal Article
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
Schwartz, Oliver, Vill, Katharina, Pfaffenlehner, Michelle, Behrens, Max, Weiß, Claudia, Johannsen, Jessika, Friese, Johannes, Hahn, Andreas, Ziegler, Andreas, Illsinger, Sabine, Smitka, Martin, von Moers, Arpad, Kölbel, Heike, Schreiber, Gudrun, Kaiser, Nadja, Wilichowski, Ekkehard, Flotats-Bastardas, Marina, Husain, Ralf A, Baumann, Matthias, Köhler, Cornelia, Trollmann, Regina, Schwerin-Nagel, Annette, Eisenkölbl, Astrid, Schimmel, Mareike, Fleger, Martin, Kauffmann, Birgit, Wiegand, Gert, Baumgartner, Manuela, Rauscher, Christian, Cirak, Sebahattin, Gläser, Dieter, Bernert, Günther, Hagenacker, Tim, Goldbach, Susanne, Probst-Schendzielorz, Kristina, Lochmüller, Hanns, Müller-Felber, Wolfgang, Schara-Schmidt, Ulrike, Walter, Maggie C, Kirschner, Janbernd, Pechmann, Astrid
Published in JAMA pediatrics (01.06.2024)
Published in JAMA pediatrics (01.06.2024)
Get more information
Journal Article
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening
Kölbel, Heike, Kopka, Marius, Modler, Laura, Blaschek, Astrid, Schara-Schmidt, Ulrike, Vill, Katharina, Schwartz, Oliver, Müller-Felber, Wolfgang
Published in Journal of neuromuscular diseases (02.01.2024)
Published in Journal of neuromuscular diseases (02.01.2024)
Get full text
Journal Article
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2
Vill, Katharina, Tacke, Moritz, König, Anna, Baumann, Matthias, Baumgartner, Manuela, Steinbach, Meike, Bernert, Guenther, Blaschek, Astrid, Deschauer, Marcus, Flotats-Bastardas, Marina, Friese, Johannes, Goldbach, Susanne, Gross, Martin, Günther, René, Hahn, Andreas, Hagenacker, Tim, Hauser, Erwin, Horber, Veronka, Illsinger, Sabine, Johannsen, Jessika, Kamm, Christoph, Koch, Jan C., Koelbel, Heike, Koehler, Cornelia, Kolzter, Kirsten, Lochmüller, Hanns, Ludolph, Albert, Mensch, Alexander, Meyer zu Hoerste, Gerd, Mueller, Monika, Mueller-Felber, Wolfgang, Neuwirth, Christoph, Petri, Susanne, Probst-Schendzielorz, Kristina, Pühringer, Manuel, Steinbach, Robert, Schara-Schmidt, Ulrike, Schimmel, Mareike, Schrank, Bertold, Schwartz, Oliver, Schlachter, Kurt, Schwerin-Nagel, Annette, Schreiber, Gudrun, Smitka, Martin, Topakian, Raffi, Trollmann, Regina, Tuerk, Matthias, Theophil, Manuela, Rauscher, Christian, Vorgerd, Mathias, Walter, Maggie C., Weiler, Markus, Weiss, Claudia, Wilichowski, Ekkehard, Wurster, Claudia D., Wunderlich, Gilbert, Zeller, Daniel, Ziegler, Andreas, Kirschner, Janbernd, Pechmann, Astrid
Published in Journal of neurology (01.05.2024)
Published in Journal of neurology (01.05.2024)
Get full text
Journal Article
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?
Schwartz, Oliver, Kölbel, Heike, Blaschek, Astrid, Gläser, Dieter, Burggraf, Siegfried, Röschinger, Wulf, Schara, Ulrike, Müller-Felber, Wolfgang, Vill, Katharina
Published in Journal of neuromuscular diseases (2022)
Published in Journal of neuromuscular diseases (2022)
Get full text
Journal Article