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

A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease

by James R. Edgar, Anita K. Ho, Matilde Laurá, Rita Horvath, Mary M. Reilly, J. Paul Luzio, Rhys C. Roberts
Published 2020-10-01

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

by Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Michael G. Hanna, Volker Straub, Tarek A. Yousry, Tarek A. Yousry, Tarek A. Yousry
Published 2018-06-01

Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro

by Emma R. Wilson, Umaiyal Kugathasan, Andrey Y. Abramov, Alex J. Clark, David L.H. Bennett, Mary M. Reilly, Linda Greensmith, Bernadett Kalmar
Published 2018-09-01

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel <i>RAB7A</i> Mutation and Inhibited EGFR Degradation

by Paola Saveri, Maria De Luca, Veronica Nisi, Chiara Pisciotta, Roberta Romano, Giuseppe Piscosquito, Mary M. Reilly, James M. Polke, Tiziana Cavallaro, Gian Maria Fabrizi, Paola Fossa, Elena Cichero, Raffaella Lombardi, Giuseppe Lauria, Stefania Magri, Franco Taroni, Davide Pareyson, Cecilia Bucci
Published 2020-04-01

Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials.

by Valeria Ricotti, Matthew R B Evans, Christopher D J Sinclair, Jordan W Butler, Deborah A Ridout, Jean-Yves Hogrel, Ahmed Emira, Jasper M Morrow, Mary M Reilly, Michael G Hanna, Robert L Janiczek, Paul M Matthews, Tarek A Yousry, Francesco Muntoni, John S Thornton
Published 2016-01-01

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

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