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Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach Kruse, Teresa; Leflerova, Diana; Cap, Annette; Portegys, Sara; Wirth, Brunhilde; Heller, Raoul; Brakemeier, Svenja; Hagenacker, Tim; Braumann, Bert; Wunderlich, Gilbert 分享 收藏
Functional Insights in PLS3-Mediated Osteogenic Regulation Zhong, Wenchao; Neugebauer, Janine; Pathak, Janak L.; Li, Xingyang; Pals, Gerard; Zillikens, M. Carola; Eekhoff, Elisabeth M. W.; Bravenboer, Nathalie; Zhang, Qingbin; Hammerschmidt, Matthias; Wirth, Brunhilde; Micha, Dimitra 分享 收藏
Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation Grass, Tobias; Dokuzluoglu, Zeynep; Buchner, Felix; Rosignol, Ines; Thomas, Joshua; Caldarelli, Antonio; Dalinskaya, Anna; Becker, Jutta; Rost, Fabian; Marass, Michele; Wirth, Brunhilde; Beyer, Marc; Bonaguro, Lorenzo; Rodriguez-Muela, Natalia 分享 收藏
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders Armirola-Ricaurte, Camila; Zonnekein, Noortje; Koutsis, Georgios; Amor-Barris, Silvia; Pelayo-Negro, Ana Lara; Atkinson, Derek; Efthymiou, Stephanie; Turchetti, Valentina; Dinopoulos, Argyris; Garcia, Antonio; Karakaya, Mert; Moris, German; Polat, Ayse Ipek; Yis, Uluc; Espinos, Carmen; Van de Vondel, Liedewei; De Vriendt, Els; Karadima, Georgia; Wirth, Brunhilde; Hanna, Michael; Houlden, Henry; Berciano, Jose; Jordanova, Albena 分享 收藏
CLUH maintains functional mitochondria and translation in motoneuronal axons and prevents peripheral neuropathy Zaninello, Marta; Schlegel, Tim; Nolte, Hendrik; Pirzada, Mujeeb; Savino, Elisa; Barth, Esther; Klein, Ines; Wuestenberg, Hauke; Uddin, Tesmin; Wolff, Lisa; Wirth, Brunhilde; Lehmann, Helmar C.; Cioni, Jean-Michel; Langer, Thomas; Rugarli, Elena I. 分享 收藏
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SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration Fortuna, Tyler R. R.; Kour, Sukhleen; Chimata, Anuradha Venkatakrishnan; Muinos-Buehl, Anixa; Anderson, Eric N. N.; Nelson IV, Charlie H. H.; Ward, Caroline; Chauhan, Om; O'Brien, Casey; Rajasundaram, Dhivyaa; Rajan, Deepa S. S.; Wirth, Brunhilde; Singh, Amit; Pandey, Udai Bhan 分享 收藏
Objective measurement of oral function in adults with spinal muscular atrophy 成人脊髓性肌萎缩症患者口腔功能的客观测量 Kruse, T.; Shamai, S.; Leflerova, D.; Wirth, B.; Heller, R.; Schloss, N.; Lehmann, H. C.; Brakemeier, S.; Hagenacker, T.; Braumann, B.; Wunderlich, G. 分享 收藏
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling 酪氨酰-tRNA合成酶在肌动蛋白捆绑中具有非常规功能 Ermanoska, Biljana; Asselbergh, Bob; Morant, Laura; Petrovic-Erfurth, Maria-Luise; Hosseinibarkooie, Seyyedmohsen; Leitao-Goncalves, Ricardo; Almeida-Souza, Leonardo; Bervoets, Sven; Sun, Litao; Lee, LaTasha; Atkinson, Derek; Khanghahi, Akram; Tournev, Ivaylo; Callaerts, Patrick; Verstreken, Patrik; Yang, Xiang-Lei; Wirth, Brunhilde; Rodal, Avital A.; Timmerman, Vincent; Goode, Bruce L.; Godenschwege, Tanja A.; Jordanova, Albena 分享 收藏
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Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany 新生儿筛查SMA-从试点项目到德国的全国筛查 Muller-Felber, Wolfgang; Blaschek, Astrid; Schwartz, Oliver; Glaser, Dieter; Nennstiel, Uta; Brockow, Inken; Wirth, Brunhilde; Burggraf, Siegfried; Roschinger, Wulf; Becker, Marc; Durner, Jurgen; Eggermann, Katja; Kolbel, Heike; Muller, Christine; Hannibal, Iris; Olgemoller, Bernd; Schara, Ulrike; von Moers, Arpad; Trollmann, Regina; Johannssen, Jessika; Ziegler, Andreas; Cirak, Sebahattin; Hahn, Andreas; von Der Hagen, Maja; Weiss, Claudia; Schreiber, Gudrun; Flotats-Bastardas, Marina; Hartmann, Hans; Illsinger, Sabine; Pechmann, Astrid; Horber, Veronka; Kirschner, Jan; Kohler, Cornelia; Winter, Benedikt; Friese, Johannes; Vill, Katharina 分享 收藏
Autophagy regulates neuronal excitability by controlling cAMP/protein kinase A signaling at the synapse Overhoff, Melina; Tellkamp, Frederik; Hess, Simon; Tolve, Marianna; Tutas, Janine; Faerfers, Marcel; Ickert, Lotte; Mohammadi, Milad; De Bruyckere, Elodie; Kallergi, Emmanouela; Delle Vedove, Andrea; Nikoletopoulou, Vassiliki; Wirth, Brunhilde; Isensee, Joerg; Hucho, Tim; Puchkov, Dmytro; Isbrandt, Dirk; Krueger, Marcus; Kloppenburg, Peter; Kononenko, Natalia L. 分享 收藏
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia Delle Vedove, Andrea; Natarajan, Janani; Zanni, Ginevra; Eckenweiler, Matthias; Muinos-Buehl, Anixa; Storbeck, Markus; Boixet, Jordina Guillen; Barresi, Sabina; Pizzi, Simone; Hoelker, Irmgard; Koerber, Friederike; Franzmann, Titus M.; Bertini, Enrico S.; Kirschner, Janbernd; Alberti, Simon; Tartaglia, Marco; Wirth, Brunhilde 分享 收藏
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The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap 来自严重，中度和轻度脊髓性肌萎缩症患者的成纤维细胞的蛋白质组特征显示出有限的重叠 Brown, Sharon J.; Kline, Rachel A.; Synowsky, Silvia A.; Shirran, Sally L.; Holt, Ian; Sillence, Kelly A.; Claus, Peter; Wirth, Brunhilde; Wishart, Thomas M.; Fuller, Heidi R. 分享 收藏
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