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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
Hicks, Debbie, Farsani, Golara Torabi, Laval, Steven, Collins, James, Sarkozy, Anna, Martoni, Elena, Shah, Ashoke, Zou, Yaqun, Koch, Manuel ORCID: 0000-0002-2962-7814, Boennemann, Carsten G., Roberts, Mark, Lochmueller, Hanns, Bushby, Kate and Straub, Volker ORCID: 0000-0001-9046-3540
(2014).
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
Hum. Mol. Genet., 23 (9).
S. 2353 - 2364.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Mutsaers, Chantal A., Wishart, Thomas M., Lamont, Douglas J., Riessland, Markus ORCID: 0000-0003-2592-5045, Schreml, Julia, Comley, Laura H., Murray, Lyndsay M., Parson, Simon H., Lochmueller, Hanns, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Talbot, Kevin ORCID: 0000-0001-5490-1697 and Gillingwater, Thomas H.
(2011).
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.
Hum. Mol. Genet., 20 (22).
S. 4334 - 4345.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Spitali, Pietro ORCID: 0000-0003-2783-688X, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca ORCID: 0000-0002-3075-6525, McDonald, Craig M., Hoffman, Eric P., Koeks, Zaida, Suchiman, H. Eka, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A. C., Niks, Erik H., Tuffery-Giraud, Sylvie, Lochmueller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke, Dubrovsky, Alberto, Kornberg, Andrew, North, Kathryn, Ryan, Monique, Webster, Richard, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Kolski, Hanna, Vishwanathan, V., Chidambaranathan, S., Nevo, Yoram, Gorni, Ksenija, Carlo, Jose, Tulinius, Mar, Lotze, Timothy, Bertorini, Tulio E., Day, John W., Karachunski, Peter, Clemens, Paula R., Abdel-Hamid, Hoda, Teasley, Jean, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Connolly, Anne M., Pestronk, Alan, Abresch, R. T., Henricson, Erik K., Joyce, Nanette C., Cnaan, Avital, Gordish-Dressmsn, Heather, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula and Duong, Tina
(2020).
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
Eur. J. Hum. Genet., 28 (6).
S. 815 - 826.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438