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Anzahl der Publikationen: 4
Zeitschriftenartikel
Vrijsen, Stephanie; Besora-Casals, Laura; Veen, Sarah van; Zielich, Jeffrey; Haute, Chris van den; Hamouda, Norin Nabil; Fischer, Christian; Ghesquiere, Bart; Tournev, Ivailo; Agostinis, Patrizia; Baekelandt, Veerle; Eggermont, Jan; Lambie, Eric; Martin, Shaun und Vangheluwe, Peter
(2020):
ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress.
In: Proceedings of the National Academy of Sciences of the United States of America, Bd. 117, Nr. 49: S. 31198-31207
Chamova, Teodora; Bichev, Stoyan; Todorov, Tihomir; Gospodinova, Mariana; Taneva, Ani; Kastreva, Kristina; Zlatareva, Dora; Krupev, Martin; Hadjiivanov, Rosen; Guergueltcheva, Velina; Grozdanova, Liliana; Tzoneva, Dochka; Hübner, Angela; Hagen, Maja von der; Schoser, Benedikt; Lochmüller, Hanns; Todorova, Albena und Tournev, Ivailo
(2018):
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G > A, p.Trp25X mutation.
In: Neuromuscular Disorders, Bd. 28, Nr. 8: S. 625-632
Wood, Libby; Bassez, Guillaume; Bleyenheuft, Corinne; Campbell, Craig; Cossette, Louise; Jimenez-Moreno, Aura Cecilia; Dai, Yi; Dawkins, Hugh; Diaz Manera, Jorge Alberto; Dogan, Celine; El Sherif, Rasha; Fossati, Barbara; Graham, Caroline; Hilbert, James; Kastreva, Kristinia; Kimura, En; Korngut, Lawrence; Kostera-Pruszczyk, Anna; Lindberg, Christopher; Lindvall, Björn; Luebbe, Elizabeth; Lusakowska, Anna; Mazanec, Radim; Meola, Giovani; Orlando, Liannna; Takahashi, Masanori P.; Peric, Stojan; Puymirat, Jack; Rakocevic-Stojanovic, Vidosava; Rodrigues, Miriam; Roxburgh, Richard; Schoser, Benedikt; Segovia, Sonia; Shatillo, Andriy; Thiele, Simone; Tournev, Ivailo; Engelen, Baziel van; Vohanka, Stanislav und Lochmüller, Hanns
(2018):
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
In: Orphanet Journal of Rare Diseases
13:155
[PDF, 1MB]
Zee, Julie van der; Gijselinck, Ilse; Mossevelde, Sara van; Perrone, Federica; Dillen, Lubina; Heeman, Bavo; Bäumer, Veerle; Engelborghs, Sebastiaan; Bleecker, Jan de; Baets, Jonathan; Gelpi, Ellen; Rojas-Garcia, Ricardo; Clarimon, Jordi; Lleo, Alberto; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Perneczky, Robert; Synofzik, Matthis; Just, Jennifer; Schöls, Ludger; Graff, Caroline; Thonberg, Håkan; Borroni, Barbara; Padovani, Alessandro; Jordanova, Albena; Sarafov, Stayko; Tournev, Ivailo; Mendonca, Alexandre de; Miltenberger-Miltenyi, Gabriel; Simoes do Couto, Frederico; Ramirez, Alfredo; Jessen, Frank; Heneka, Michael T.; Gomez-Tortosa, Estrella; Danek, Adrian; Cras, Patrick; Vandenberghe, Rik; Jonghe, Peter de; Deyn, Peter P. de; Sleegers, Kristel; Cruts, Marc und Broeckhoven, Christine van
(2017):
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
In: Human Mutation, Bd. 38, Nr. 3: S. 297-309