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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
Willkomm, Lena, Heredia, Raul, Hoffmann, Katrin, Wang, Haicui, Voit, Thomas, Hoffman, Eric P. and Cirak, Sebahattin (2016). Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. J. Hum. Genet., 61 (6). S. 571 - 574. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X