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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 10
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
Guettsches, Anne-Katrin; Meyer, Nancy; Zahedi, Rene P.; Evangelista, Teresinha; Muentefering, Thomas; Ruck, Tobias; Lacene, Emmanuelle; Heute, Christoph; Gonczarowska-Jorge, Humberto; Schoser, Benedikt; Krause, Sabine; Hentschel, Andreas; Vorgerd, Matthias und Roos, Andreas
(2022):
FYCO1 Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology.
In: Biomedicines, Bd. 10, Nr. 10, 2443
Preuße, Corinna; Paesler, Barbara; Nelke, Christopher; Cengiz, Derya; Müntefering, Thomas; Roos, Andreas; Amelin, Damien; Allenbach, Yves; Uruha, Akinori; Dittmayer, Carsten; Hentschel, Andreas; Pawlitzki, Marc; Hoffmann, Sarah; Timm, Sara; Louis, Sarah Leonard; Dengler, Nora F.; Wiendl, Heinz; Lunemann, Jan D.; Sickmann, Albert; Hervier, Baptiste; Meuth, Sven G.; Schneider, Udo; Schänzer, Anne; Krause, Sabine; Tomaras, Stylianos; Feist, Eugen; Hasseli, Rebecca; Goebel, Hans-Hilmar; Gallay, Laure; Streichenberger, Nathalie; Benveniste, Olivier; Stenzel, Werner und Ruck, Tobias
(2022):
Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis.
In: Acta Neuropathologica, Bd. 144, Nr. 2: S. 353-372
2021
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
2020
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]
2017
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