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2021
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
2019
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