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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 8
2024
Vill, Katharina 
ORCID: https://orcid.org/0000-0003-1925-7538; 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 und Pechmann, Astrid
(27. Februar 2024):
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
In: Journal of Neurology, Bd. 271, Nr. 5: S. 2787-2797
[PDF, 894kB]
ORCID: https://orcid.org/0000-0003-1925-7538; 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 und Pechmann, Astrid
(27. Februar 2024):
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
In: Journal of Neurology, Bd. 271, Nr. 5: S. 2787-2797
[PDF, 894kB]
2022
Gangfuss, Andrea; Hentschel, Andreas; Rademacher, Nina; Sickmann, Albert; Stueve, Burkhard; Horvath, Rita; Gross, Claudia; Kohlschmidt, Nicolai; Foerster, Fabian; Abicht, Angela; Schaenzer, Anne; Schara-Schmidt, Ulrike; Roos, Andreas und Della Marina, Adela
(2022):
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
In: Human Mutation, Bd. 43, Nr. 4: S. 477-486
Della Marina, Adela; Bertolini, Annikki; Wegener-Panzer, Andreas; Flotats-Bastardas, Marina; Reinhardt, Tabea; El Naggar, Ines; Distelmaier, Felix; Blaschek, Astrid; Schara-Schmidt, Ulrike; Brunet, Theresa; Wagner, Matias; Smirnov, Dimitri; Prokisch, Holger; Wortmann, Saskia B. und Rostasy, Kevin
(2022):
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially.
In: European Journal of Paediatric Neurology, Bd. 41: S. 27-35
Landfeldt, Erik; Zhang, Rongrong; Childs, Anne-Marie; Johannsen, Jessika; O'Rourke, Declan; Sejersen, Thomas; Strautmanis, Jurgis; Schara-Schmidt, Ulrike; Tulinius, Mar; Walter, Maggie C.; Willis, Tracey und Buesch, Katharina
(2022):
Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study.
In: Journal of Medical Economics, Bd. 25, Nr. 1: S. 808-816
Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Schwersenz, Inge; Walter, Maggie C.; Baumann, Matthias; Baumgartner, Manuela; Deschauer, Marcus; Eisenkölbl, Astrid; Flotats-Bastardas, Marina; Hahn, Andreas; Horber, Veronka; Husain, Ralf A.; Illsinger, Sabine; Johannsen, Jessika; Köhler, Cornelia; Kölbel, Heike; Müller, Monika; Moers, Arpad von; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Stögmann, Eva; Trollmann, Regina; Vill, Katharina; Weiß, Claudia; Wiegand, Gert; Ziegler, Andreas; Lochmüller, Hanns und Kirschner, Janbernd
(2022):
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
In: Brain, Bd. 146, Nr. 2: S. 668-677
Blaschek, Astrid; Koelbel, Heike; Schwartz, Oliver; Koehler, Cornelia; Glaeser, Dieter; Eggermann, Katja; Hannibal, Iris; Schara-Schmidt, Ulrike; Mueller-Felber, Wolfgang und Vill, Katharina
(2022):
Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 5: S. 597-605
Kölbel, Heike; Modler, Laura; Blaschek, Astrid; Schara-Schmidt, Ulrike; Vill, Katharina; Schwartz, Oliver und Müller-Felber, Wolfgang
(2022):
Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening.
In: Children, Bd. 9, Nr. 12, 1829
2021
Koelbel, Heike; Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Nennstiel, Uta; Schara-Schmidt, Ulrike; Hoffmann, Georg F.; Glaeser, Dieter; Roeschinger, Wulf; Bernert, Guenther; Klein, Andrea und Mueller-Felber, Wolfgang
(2021):
Neugeborenenscreeningprogramm für die spinale Muskelatrophie.
In: Nervenarzt, Bd. 93, Nr. 2: S. 135-141