FAU College Collections
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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
Type: Text
Year: 2018, 2018
Member of: FAU College Collections
Contributors: Baets, Jonathan, Baple, Emma L., Barwick, Katy E.S., Beijer, Danique, Blakely, Randy D., Bower, Matthew, Chilton, John K., Chioza, Barry A., Crosby, Andrew H., De Bleecker, Jan, De Jonghe, Peter, Deconinck, Tine, Hardy, Holly, Mademan, Ines, McEntagart, Meriel M., Russell, Mark A., Salter, Claire G., Walk, David
Full Text: ARTICLE OPEN ACCESS Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies Claire G. Salter, BMBS,* Danique Beijer, MSc,* Holly Hardy, PhD, Katy E.S. Barwick, PhD, Matthew Bower, MS, Ines Mademan, PhD, Peter De Jonghe, …
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Type: Text
Year: 2017, 2017
Member of: FAU College Collections
Contributors: Abdul-Rahman, Omar A, Akpulat, Ugur, Baple, Emma L, Barwick, Katy E S, Blakely, Randy D, Chilton, John, Chioza, Barry A, Cirak, Sebahattin, Crosby, Andrew H, Hardy, Holly, Harlalka, Gaurav, Karakaya, Mert, Kvarnung, Malin, Refai, Osama, Russell, Mark A, Salter, Claire G, Schara, Ulrike, Sejersen, Thomas, Stüve, Burkhardt, Taylan, Fulya, Wang, Haicui, Weis, Joachim, Wright, Jane, Zimmerman, Holly H
Full Text: doi:10.1093/brain/awx249 BRAIN 2017: 140; 2838–2850 | 2838 Haicui Wang,1,2,* Claire G. Salter,3,4,* Osama Refai,5,* Holly Hardy,3 Katy E. S. Barwick,3 Ugur Akpulat,1,2,6 Malin Kvarnung,7,8 Barry A. Chioza,3 Gaurav Harlalka,3 Fulya Taylan,7,9 Thomas …