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Journal Article
Mohassel, Payam 
ORCID: 0000-0001-5313-9514, Liewluck, Teerin, Hu, Ying, Ezzo, Daniel, Ogata, Tracy, Saade, Dimah, Neuhaus, Sarah, Bolduc, Veronique, Zou, Yaqun, Donkervoort, Sandra, Medne, Livija, Sumner, Charlotte J., Dyck, P. James B., Wierenga, Klaas J., Tennekoon, Gihan, Finkel, Richard S., Chen, Jiani, Winder, Thomas L., Staff, Nathan P., Foley, A. Reghan, Koch, Manuel and Bonnemann, Carsten G.
(2019).
Dominant collagen XII mutations cause a distal myopathy.
Ann. Clin. Transl. Neurol., 6 (10).
S. 1980 - 1989.
HOBOKEN:
WILEY.
ISSN 2328-9503
Pagnamenta, Alistair T., Kaiyrzhanov, Rauan ORCID: 0000-0003-1640-4010, Zou, Yaqun, Da'as, Sahar, I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen ORCID: 0000-0003-1607-0428, Ferla, Matteo P., Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita ORCID: 0000-0001-7351-959X, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A., Yip, Janice, Foley, A. Reghan, Gutowski, Nicholas, Jungbluth, Heinz ORCID: 0000-0002-7159-3427, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M., Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C., Need, Anna C., Nemeth, Andrea H., Neuhaus, Sarah B., Norwood, Fiona, O'Donnell, Marie, O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W., Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Fakhro, Khalid A., Tajsharghi, Homa, Bonnemann, Carsten G., Taylor, Jenny C. and Houlden, Henry
(2021).
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain, 144.
S. 584 - 601.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156