 | Up a level |
Journal Article
Gualandi, Francesca, Sette, Elisabetta, Fortunato, Fernanda, Bigoni, Stefania, De Grandis, Domenico, Scotton, Chiara, Selvatici, Rita 
ORCID: 0000-0002-3099-0100, Neri, Marcella, Incensi, Alex ORCID: 0000-0003-2163-5403, Liguori, Rocco, Storbeck, Markus, Karakaya, Mert, Simioni, Valentina, Squarzoni, Stefano ORCID: 0000-0001-6538-5923, Timmerman, Vincent, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Donadio, Vincenzo, Tugnoli, Valeria and Ferlini, Alessandra
(2019).
Report of a novel ATP7A mutation causing distal motor neuropathy.
Neuromusc. Disord., 29 (10).
S. 776 - 786.
OXFORD:
PERGAMON-ELSEVIER SCIENCE LTD.
ISSN 1873-2364
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