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

Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A

by Antonietta Franco, Xiawei Dang, Emily K Walton, Joshua N Ho, Barbara Zablocka, Cindy Ly, Timothy M Miller, Robert H Baloh, Michael E Shy, Andrew S Yoo, Gerald W Dorn II
Published 2020-10-01

Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age

by Judith Eschbach, Jérôme Sinniger, Jamal Bouitbir, Anissa Fergani, Anna-Isabel Schlagowski, Joffrey Zoll, Bernard Geny, Frédérique René, Yves Larmet, Vincent Marion, Robert H. Baloh, Matthew B. Harms, Michael E. Shy, Nadia Messadeq, Patrick Weydt, Jean-Philippe Loeffler, Albert C. Ludolph, Luc Dupuis
Published 2013-10-01

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

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS

by Kayla M. D. Cornett, Manoj P. Menezes, Paula Bray, Rosemary R. Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Tim Estilow, Sabrina W. Yum, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M. Reilly, Richard S. Finkel, Katy J. Eichinger, David N. Herrmann, Michael E. Shy, Joshua Burns, CMTPedS Study Group
Published 2020-09-01