Logo Logo
Eine Ebene nach oben
Exportieren als [RSS feed] RSS 1.0 [RSS2 feed] RSS 2.0
Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 7

Zeitschriftenartikel

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

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

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]

Weis, Joachim; Claeys, Kristl G.; Roos, Andreas; Azzedine, Hamid; Katona, Istvan; Schröder, J. Michael und Senderek, Jan (2017): Towards a functional pathology of hereditary neuropathies. In: Acta Neuropathologica, Bd. 133, Nr. 4: S. 493-515

Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bönnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; Goede, Christian de; Silva, Tamiris Borges da; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Müller, Juliane; Kingston, Helen; Müller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmüller, Hanns und Senderek, Jan (2017): Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. In: American Journal of Human Genetics, Bd. 100, Nr. 3: S. 523-536 [PDF, 2MB]

Kollipara, Laxmikanth; Buchkremer, Stephan; Coraspe, Jose Andres Gonzalez; Hathazi, Denisa; Senderek, Jan; Weis, Joachim; Zahedi, Rene P. und Roos, Andreas (2017): In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjogren syndrome. In: Oncotarget, Bd. 8, Nr. 40: S. 68493-68516

Brauers, Eva; Roos, Andreas; Kollipara, Laxmikanth; Zahedi, René P.; Beckmann, Alf; Mohanadas, Nilane; Bauer, Hartmut; Häusler, Martin; Thoma, Stéphanie; Kress, Wolfram; Senderek, Jan und Weis, Joachim (2017): The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis. In: Proteomics Clinical Applications, Bd. 11, Nr. 43132, 1600007

Diese Liste wurde am Sat Mar 23 23:27:01 2024 CET erstellt.