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Journal Article
Chamova, Teodora, Guergueltcheva, Velina, Gospodinova, Mariana, Krause, Sabine 
ORCID: 0000-0002-3141-886X, Cirak, Sebahattin, Kaprelyan, Ara, Angelova, Lyudmila, Mihaylova, Violeta, Bichev, Stoyan, Chandler, David, Naydenov, Emanuil, Grudkova, Margarita, Djukmedzhiev, Presian, Voit, Thomas, Pogoryelova, Oksana, Lochmueller, Hanns, Goebel, Hans H., Bahlo, Melanie ORCID: 0000-0001-5132-0774, Kalaydjieva, Luba and Tournev, Ivailo
(2015).
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
Neuromusc. Disord., 25 (9).
S. 713 - 719.
OXFORD:
PERGAMON-ELSEVIER SCIENCE LTD.
ISSN 1873-2364
van der Zee, Julie, Gijselinck, Ilse, Van Mossevelde, Sara, Perrone, Federica ORCID: 0000-0002-4079-8972, Dillen, Lubina, Heeman, Bavo, Baumer, Veerle, Engelborghs, Sebastiaan, De Bleecker, Jan, Baets, Jonathan, Gelpi, Ellen, Rojas-Garcia, Ricardo, Clarimon, Jordi, Lleo, Alberto, Diehl-Schmid, Janine ORCID: 0000-0002-7745-1382, Alexopoulos, Panagiotis, Perneczky, Robert ORCID: 0000-0003-1981-7435, Synofzik, Matthis, Just, Jennifer, Schoels, Ludger, Graff, Caroline, Thonberg, Hakan, Borroni, Barbara, Padovani, Alessandro, Jordanova, Albena ORCID: 0000-0002-3833-3754, Sarafov, Stayko, Tournev, Ivailo, de Mendonca, Alexandre ORCID: 0000-0002-0488-1453, Miltenberger-Miltenyi, Gabriel ORCID: 0000-0003-0224-1281, Simoes do Couto, Frederico, Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Jessen, Frank, Heneka, Michael T., Gomez-Tortosa, Estrella, Danek, Adrian ORCID: 0000-0001-8857-5383, Cras, Patrick, Vandenberghe, Rik ORCID: 0000-0001-6237-2502, De Jonghe, Peter, De Deyn, Peter P., Sleegers, Kristel, Cruts, Marc and Van Broeckhoven, Christine ORCID: 0000-0003-0183-7665
(2017).
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Hum. Mutat., 38 (3).
S. 297 - 310.
HOBOKEN:
WILEY.
ISSN 1098-1004