Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy

por Motley, William W., Züchner, Stephan, Scherer, Steven S.
Publicado 2020

Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts

por Santoro, Stephanie L, Atoum, Dema, Hufnagel, Robert B, Motley, William W
Publicado 2017

A Spontaneous Mutation in Contactin 1 in the Mouse

por Davisson, Muriel T., Bronson, Roderick T., Tadenev, Abigail L. D., Motley, William W., Krishnaswamy, Arjun, Seburn, Kevin L., Burgess, Robert W.
Publicado 2011

Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology

por Grice, Stuart J., Sleigh, James N., Motley, William W., Liu, Ji-Long, Burgess, Robert W., Talbot, Kevin, Cader, M. Zameel
Publicado 2015

Inducible knockout of Clec16a in mice results in sensory neurodegeneration

por Hain, Heather S., Pandey, Rahul, Bakay, Marina, Strenkowski, Bryan P., Harrington, Danielle, Romer, Micah, Motley, William W., Li, Jian, Lancaster, Eunjoo, Roth, Lindsay, Grinspan, Judith B., Scherer, Steven S., Hakonarson, Hakon
Publicado 2021

Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels

por Motley, William W., Seburn, Kevin L., Nawaz, Mir Hussain, Miers, Kathy E., Cheng, Jun, Antonellis, Anthony, Green, Eric D., Talbot, Kevin, Yang, Xiang-Lei, Fischbeck, Kenneth H., Burgess, Robert W.
Publicado 2011

Mutation in Mouse Hei10, an E3 Ubiquitin Ligase, Disrupts Meiotic Crossing Over

por Ward, Jeremy O, Reinholdt, Laura G, Motley, William W, Niswander, Lisa M, Deacon, Dekker C, Griffin, Laurie B, Langlais, Kristofor K, Backus, Vickie L, Schimenti, Kerry J, O'Brien, Marilyn J, Eppig, John J, Schimenti, John C
Publicado 2007

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

por Meister-Broekema, Melanie, Freilich, Rebecca, Jagadeesan, Chandhuru, Rauch, Jennifer N., Bengoechea, Rocio, Motley, William W., Kuiper, E. F. Elsiena, Minoia, Melania, Furtado, Gabriel V., van Waarde, Maria A. W. H., Bird, Shawn J., Rebelo, Adriana, Zuchner, Stephan, Pytel, Peter, Scherer, Steven S., Morelli, Federica F., Carra, Serena, Weihl, Conrad C., Bergink, Steven, Gestwicki, Jason E., Kampinga, Harm H.
Publicado 2018