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Journal Article
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
Ullmann, Urielle, D'Argenzio, Luigi ORCID: 0000-0003-4001-2914, Mathur, Shrey, Whyte, Tamieka, Quinlivan, Ros, Longman, Cheryl, Farrugia, Maria Elena, Manzur, Adnan, Willis, Tracey, Jungbluth, Heinz ORCID: 0000-0002-7159-3427, Pitt, Matthew, Cirak, Sebahattin, Feng, Lucy, Stewart, William, Mein, Rachael, Phadke, Rahul, Sewry, Caroline, Sarkozy, Anna and Muntoni, Francesco
(2018).
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Neuromusc. Disord., 28 (9).
S. 741 - 750.
OXFORD:
PERGAMON-ELSEVIER SCIENCE LTD.
ISSN 1873-2364