Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

ανά Aharoni, Sharon, Barwick, Katy E. S., Straussberg, Rachel, Harlalka, Gaurav V., Nevo, Yoram, Chioza, Barry A., McEntagart, Meriel M., Mimouni-Bloch, Aviva, Weedon, Michael, Crosby, Andrew H.
Τόπος έκδοσης BMC Med Genet (2016)

Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

ανά Barwick, Katy E.S., Wright, Jane, Al-Turki, Saeed, McEntagart, Meriel M., Nair, Ajith, Chioza, Barry, Al-Memar, Ali, Modarres, Hamid, Reilly, Mary M., Dick, Katherine J., Ruggiero, Alicia M., Blakely, Randy D., Hurles, Matt E., Crosby, Andrew H.
Έκδοση 2012

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

ανά Salter, Claire G., Beijer, Danique, Hardy, Holly, Barwick, Katy E.S., Bower, Matthew, Mademan, Ines, De Jonghe, Peter, Deconinck, Tine, Russell, Mark A., McEntagart, Meriel M., Chioza, Barry A., Blakely, Randy D., Chilton, John K., De Bleecker, Jan, Baets, Jonathan, Baple, Emma L., Walk, David, Crosby, Andrew H.
Τόπος έκδοσης Neurol Genet (2018)

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy

ανά Sullivan, Jeremy M., Motley, William W., Johnson, Janel O., Aisenberg, William H., Marshall, Katherine L., Barwick, Katy E.S., Kong, Lingling, Huh, Jennifer S., Saavedra-Rivera, Pamela C., McEntagart, Meriel M., Marion, Marie-Helene, Hicklin, Lucy A., Modarres, Hamid, Baple, Emma L., Farah, Mohamed H., Zuberi, Aamir R., Lutz, Cathleen M., Gaudet, Rachelle, Traynor, Bryan J., Crosby, Andrew H., Sumner, Charlotte J.
Τόπος έκδοσης J Clin Invest (2020)