MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion

por O’Connor, Emily, Phan, Vietxuan, Cordts, Isabell, Cairns, George, Hettwer, Stefan, Cox, Daniel, Lochmüller, Hanns, Roos, Andreas
Publicado 2018

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C

por Cipriani, Silvia, Phan, Vietxuan, Médard, Jean-Jacques, Horvath, Rita, Lochmüller, Hanns, Chrast, Roman, Roos, Andreas, Spendiff, Sally
Publicado 2018

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

por Bansagi, Boglarka, Phan, Vietxuan, Baker, Mark R., O'Sullivan, Julia, Jennings, Matthew J., Whittaker, Roger G., Müller, Juliane S., Duff, Jennifer, Griffin, Helen, Miller, James A.L., Gorman, Grainne S., Lochmüller, Hanns, Chinnery, Patrick F., Roos, Andreas, Swan, Laura E., Horvath, Rita
Publicado 2018