Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy

by Alexander M. Rossor, James N. Sleigh, Michael Groves, Francesco Muntoni, Mary M. Reilly, Casper C. Hoogenraad, Giampietro Schiavo
Published 2020-03-01

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A

by Hongge Wang, Matthew Davison, Kathryn Wang, Tai‐He Xia, Martin Kramer, Katherine Call, Jun Luo, Xingyao Wu, Riccardo Zuccarino, Chelsea Bacon, Yunhong Bai, John J. Moran, Laurie Gutmann, Shawna M. E. Feely, Tiffany Grider, Alexander M. Rossor, Mary M. Reilly, John Svaren, Michael E. Shy
Published 2020-01-01

A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication.

by Ghjuvan'Ghjacumu Shackleford, Leandro N Marziali, Yo Sasaki, Anke Claessens, Cinzia Ferri, Nadav I Weinstock, Alexander M Rossor, Nicholas J Silvestri, Emma R Wilson, Edward Hurley, Grahame J Kidd, Senthilvelan Manohar, Dalian Ding, Richard J Salvi, M Laura Feltri, Maurizio D'Antonio, Lawrence Wrabetz
Published 2022-11-01

Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A

by Carolynne M. Doherty, Jasper M. Morrow, Riccardo Zuccarino, Paige Howard, Stephen Wastling, Menelaos Pipis, Nick Zafeiropoulos, Katherine J. Stephens, Tiffany Grider, Shawna M. E. Feely, Peggy Nopoulous, Mariola Skorupinska, Evelin Milev, Emma Nicolaisen, Magdalena Dudzeic, Amy McDowell, Nuran Dilek, Francesco Muntoni, Alexander M. Rossor, Sachit Shah, Matilde Laura, Tarek A. Yousry, Daniel Thedens, John Thornton, Michael E. Shy, Mary M. Reilly
Published 2024-03-01