|
Eine Ebene nach oben |
Gruppiert nach:
Dokumententyp
| Veröffentlichungsdatum
Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 21
Zeitschriftenartikel
Schwartz, Oliver; Koelbel, Heike; Blaschek, Astrid; Glaeser, Dieter; Burggraf, Siegfried; Roeschinger, Wulf; Schara, Ulrike; Mueller-Felber, Wolfgang und Vill, Katharina
(2022):
Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 3: S. 389-396
Vogt, Guido; El Choubassi, Naji; Herczegfalvi, Agnes; Koelbel, Heike; Lekaj, Anja; Schara, Ulrike; Holtgrewe, Manuel; Krause, Sabine; Horvath, Rita; Schuelke, Markus; Hubner, Christoph; Mundlos, Stefan; Roos, Andreas; Lochmueller, Hanns; Karcagi, Veronika; Kornak, Uwe und Fischer-Zirnsak, Bjoern
(2021):
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 4: S. 972-986
Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Glaeser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Roeschinger, Wulf; Becker, Marc; Czibere, Ludwig; Durner, Jürgen; Eggermann, Katja; Olgemoeller, Bernhard; Harms, Erik; Schara, Ulrike; Koelbel, Heike und Mueller-Felber, Wolfgang
(2021):
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 153
Bernert, Guenther; Hahn, Andreas; Köhler, Cornelia; Meyer, Sascha; Schara, Ulrike; Schlachter, Kurt; Trollmann, Regina und Walter, Maggie C.
(2021):
Expertenempfehlung: Therapie nichtgehfähiger Patienten mit Muskeldystrophie Duchenne.
In: Der Nervenarzt, Bd. 92, Nr. 4: S. 359-366
[PDF, 338kB]
Saffari, Afshin; Cannet, Claire; Blaschek, Astrid; Hahn, Andreas; Hoffmann, Georg F.; Johannsen, Jessika; Kirsten, Romy; Kockaya, Musa; Kölker, Stefan; Müller-Felber, Wolfgang; Roos, Andreas; Schäfer, Hartmut; Schara, Ulrike; Spraul, Manfred; Trefz, Friedrich K.; Vill, Katharina; Wick, Wolfgang; Weiler, Markus; Okun, Jürgen G. und Ziegler, Andreas
(2021):
H-1-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 441
Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas und Haack, Tobias B.
(2021):
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
In: Brain, Bd. 144: S. 574-583
Della Marina, Adela; Wibbeler, Eva; Abicht, Angela; Kolbel, Heike; Lochmueller, Hanns; Roos, Andreas und Schara, Ulrike
(Dezember 2020):
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study.
In: Frontiers in Human Neuroscience, Bd. 14, 560860: S. 1-13
[PDF, 857kB]
Ziegler, Andreas; Wilichowski, Ekkehard; Schara, Ulrike; Hahn, Andreas; Müller-Felber, Wolfgang; Johannsen, Jessika; Hagen, Maja von der; Moers, Arpad von; Stoltenburg, Corinna; Saffari, Afshin; Walter, Maggie C.; Husain, Ralf A.; Pechmann, Astrid; Köhler, Cornelia; Horber, Veronka; Schwartz, Oliver und Kirschner, Janbernd
(2020):
Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101.
In: Nervenarzt, Bd. 91, Nr. 6: S. 518-529
Villar-Quiles, Rocio N.; Hagen, Maja von der; Metay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; Visser, Marianne de; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lutschg, Jurg; Malfatti, Edoardo; Mayer, Michele; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A.; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J. Andoni; Kooi, Anneke van der; Wilichowski, Ekkehard; Romero, Norma B.; Fardeau, Michel; Bonnemann, Carsten G.; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike und Ferreiro, Ana
(2020):
The clinical, histologic, and genotypic spectrum ofSEPN1-related myopathy A case series.
In: Neurology, Bd. 95, Nr. 11, E1512-E1527
Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andres; Ortez, Carlos; Comi, Giacomo Pietro; ten Dam, Leroy; De Visser, Marianne; Kooi, A. J. van der; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuss, Andrea; Lokken, Nicoline; Storgaard, Glesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonsolimenez, Alicia; Claeys, Kristl G.; Gomez-Andres, David; Munell, Francina; Costa-Comellas, Laura; Haberlova, Jana; Rohlenova, Marie; Elke, De Vos; De Bleecker, Jan L.; Dominguez-Gonzalez, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernandez-Torron, Roberto; de Munain, Adolfo Lopez; Camacho-Salas, Ana; Melegh, Bela; Hadzsiev, Kinga; Leonardis, Lea; Koritnik, Blaz; Garibaldi, Matteo; De Leon-Hernandez, Juan Carlos; Malfatti, Edoardo; Fraga-Bau, Arturo; Richard, Isabelle; Illa, Isabel und Diaz-Manera, Jordi
(2020):
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
In: Brain, Bd. 143: S. 2696-2708
Janisch, Maria; Boehme, Kristin; Thiele, Simone; Bock, Annette; Kirschner, Janbernd; Schara, Ulrike; Walter, Maggie C.; Nolte-Buchholtz, Silke und Hagen, Maja von der
(2020):
Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy - A patients' perspective.
In: Neuromuscular Disorders, Bd. 30, Nr. 12: S. 975-985
Meinke, Peter; Kerr, Alastair R. W.; Czapiewski, Rafal; de Las Heras, Jose; Dixon, Charles R.; Harris, Elizabeth; Koelbel, Heike; Muntoni, Francesco; Schara, Ulrike; Straub, Volker; Schoser, Benedikt; Wehnert, Manfred und Schirmer, Eric C.
(2020):
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
In: Ebiomedicine, Bd. 51, 102587
Kirschner, Janbernd; Bernert, Guenther; v der Hagen, Maja; Hahn, Andreas; Johannsen, Jessika; Klein, Andrea; Müller-Felber, Wolfgang; Ziegler, Andreas und Schara, Ulrike
(2020):
Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec. Stellungnahme der Gesellschaft für Neuropädiatrie.
In: Monatsschrift Kinderheilkunde, Bd. 168, Nr. 10: S. 938-941
Blaschek, Astrid; Vill, Katharina; Müller-Felber, Wolfgang und Schara, Ulrike
(2020):
Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter — Große Hoffnungen und unbekannte Risiken.
In: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, Bd. 63, Nr. 7: S. 891-897
[PDF, 735kB]
Dittrich, Sven; Graf, Erika; Trollmann, Regina; Neudorf, Ulrich; Schara, Ulrike; Heilmann, Antje; Hagen, Maja von der; Stiller, Brigitte; Kirschner, Janbernd; Dalla Pozza, Robert; Müller-Felber, Wolfgang; Weiss, Katja; Au, Katja von; Khalil, Markus; Motz, Reinald; Korenke, Christoph; Lange, Martina; Wilichowski, Ekkehard; Pattathu, Joseph; Ebinger, Friedrich; Wiechmann, Nicola; Schröder, Rolf; Halbfass, Julia; Webinger, Jasmin; Weise, Anja; Hermdobler, Franz; Nerad, Mateja; Shabaiek, Amira; Akin-Erdinc, Gueler; Greim, Verena; Böcker, Dorothee; Siepe, Stefanie; Schneider-Fuchs, Sabine; Egenhofer-Kummert, Brigitte; Burkhardt, Barbara; Neumann, Elena; Korinthenberg, Rudolf; Apitz, Christian; Freund, Matthias; Schumacher, Michael; Gravenhorst, Verena; Deppe, Daniela und Eichhorn, Joachim
(2019):
Effect and safety of treatment with ACE-inhibitor Enalapril and beta-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.
In: Orphanet Journal of Rare Diseases, Bd. 14, 105
Pechmann, Astrid; König, Kirsten; Bernert, Guenther; Schachtrup, Kristina; Schara, Ulrike; Schorling, David; Schwersenz, Inge; Stein, Sabine; Tassoni, Adrian; Vogt, Sibylle; Walter, Maggie C.; Lochmüller, Hanns und Kirschner, Janbernd
(2019):
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.
In: Orphanet Journal of Rare Diseases, Bd. 14, 18
Koelbel, Heike; Abicht, Angela; Schwartz, Oliver; Katona, Istvan; Paulus, Werner; Neuen-Jacob, Eva; Weis, Joachim und Schara, Ulrike
(2019):
Characteristic clinical and ultrastructural findings in nesprinopathies.
In: European Journal of Paediatric Neurology, Bd. 23, Nr. 2: S. 254-261
Geis, Tobias; Roedl, Tanja; Topaloglu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Müller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Hübner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute und Koelbel, Heike
(2019):
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
In: Orphanet Journal of Rare Diseases, Bd. 14, 179
Tacke, Moritz; Borggraefe, Ingo; Gerstl, Lucia; Heinen, Florian; Vill, Katharina; Bonfert, Michaela; Bast, Thomas; Neubauer, Bernd Axel; Baumeister, Friedrich; Baethmann, Martina; Bentele, Karl; Blank, Christian; Blank, Harald M.; Bode, Harald; Bosch, Friedrich; Brandl, Ulrich; Brockmann, Knut; Dahlem, Peter; Ernst, Jan-Peter; Feldmann, Evemarie; Fiedler, Andreas; Gerigk, Michael; Hess, Sören; Hikel, Christiane; Hoffmann, Hans -Georg; Kieslich, Matthias; Klepper, Jörg; Kluger, Gerhard; Koch, Hartmut; Koch, Walter; Korinthenberg, Rudolf; Krois, Ilona; Kuehne, Hermann; Kurlemann, Gerhard; Mandl, Michaela; Mause, Ulrike; Navratil, Peter; Opp, Joachim; Penzien, Johann; Prietsch, Viola; Quattlaender, Axel; Rating, Dietz; Schara, Ulrike; Shamdeen, Mohammed G.; Sprinz, Andreas; Wendker-Magrabi, Hildegard; Stephani, Ulrich; Muhle, Hiltrud; Strassburg, Hans-Michael; Toepke, Baerbel; Trollmann, Regina; Tuschen-Hofstaetter, Elisabeth; Waltz, Stephan; Weber, Gabriele; Wien, Frank U.; Wolff', Markus; Polster, Tilman; Freitag, Hedwig; Soenmez, Otzcam; Reinhardt, Klaus; Traus, Marion und Hoovey, Zeecam
(2018):
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial.
In: Seizure-European Journal of Epilepsy, Bd. 56: S. 115-120
Hinze, Claas H.; Oommen, Prasad T.; Dressler, Frank; Urban, Andreas; Weller-Heinemann, Frank; Speth, Fabian; Lainka, Elke; Brunner, Jürgen; Fesq, Heike; Foell, Dirk; Müller-Felber, Wolfgang; Neudorf, Ulrich; Rietschel, Christoph; Schwarz, Tobias; Schara, Ulrike und Haas, Johannes-Peter
(2018):
Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austria.
In: Pediatric Rheumatology
16:40
[PDF, 642kB]
Preuße, Corinna; Allenbach, Yves; Hoffmann, Olaf; Goebel, Hans-Hilmar; Pehl, Debora; Radke, Josefine; Doeser, Alexandra; Schneider, Udo; Alten, Rieke H. E.; Kallinich, Tilmann; Benveniste, Olivier; Moers, Arpad von; Schoser, Benedikt; Schara, Ulrike und Stenzel, Werner
(2016):
Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis.
In: Acta Neuropathologica Communications
4:45
[PDF, 2MB]