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Journal Article
Chen, Zhongbo 
ORCID: 0000-0001-6668-7202, Maroofian, Reza, Basak, A. Nazli, Shingavi, Leena, Karakaya, Mert, Efthymiou, Stephanie, Gustavsson, Emil K., Meier, Leyla, Polavarapu, Kiran, Vengalil, Seena, Preethish-Kumar, Veeramani, Nandeesh, Bevinahalli N., Gunes, Nalan Gokce, Akan, Onur, Candan, Fatma, Schrank, Bertold, Zuchner, Stephan, Murphy, David, Kapoor, Mahima, Ryten, Mina, Wirth, Brunhilde, Reilly, Mary M., Nalini, Atchayaram, Houlden, Henry and Sarraf, Payam
.
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Eur. J. Neurol..
HOBOKEN:
WILEY.
ISSN 1468-1331
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