Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)

by Nivedita U. Jerath, Tiffany Grider, Michael E. Shy
Published 2015-01-01

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

by Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson
Published 2015-01-01

P004: Urine polyols for diagnosis of sorbitol dehydrogenase (SORD) deficiency-related peripheral neuropathy*

by Amy White, Jordan Bontrager, William Laxen, Perry Loken, Tiffany Grider, Josef Alawneh, Vincent Carson, Emily Lauer, Angela Pickart, Zhiyv Niu, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Patricia Hall, Dietrich Matern, Michael Shy, David Herrmann, Matthew Schultz
Published 2024-01-01

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

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