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

by Stephanie L Santoro, Dema Atoum, Robert B Hufnagel, William W Motley
Published 2017-06-01

A spontaneous mutation in contactin 1 in the mouse.

by Muriel T Davisson, Roderick T Bronson, Abigail L D Tadenev, William W Motley, Arjun Krishnaswamy, Kevin L Seburn, Robert W Burgess
Published 2011-01-01

Inducible knockout of Clec16a in mice results in sensory neurodegeneration

by Heather S. Hain, Rahul Pandey, Marina Bakay, Bryan P. Strenkowski, Danielle Harrington, Micah Romer, William W. Motley, Jian Li, Eunjoo Lancaster, Lindsay Roth, Judith B. Grinspan, Steven S. Scherer, Hakon Hakonarson
Published 2021-04-01

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.

by William W Motley, Kevin L Seburn, Mir Hussain Nawaz, Kathy E Miers, Jun Cheng, Anthony Antonellis, Eric D Green, Kevin Talbot, Xiang-Lei Yang, Kenneth H Fischbeck, Robert W Burgess
Published 2011-12-01

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila

by Biljana Ermanoska, William W. Motley, Ricardo Leitão-Gonçalves, Bob Asselbergh, LaTasha H. Lee, Peter De Rijk, Kristel Sleegers, Tinne Ooms, Tanja A. Godenschwege, Vincent Timmerman, Kenneth H. Fischbeck, Albena Jordanova
Published 2014-08-01

Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over.

by Jeremy O Ward, Laura G Reinholdt, William W Motley, Lisa M Niswander, Dekker C Deacon, Laurie B Griffin, Kristofor K Langlais, Vickie L Backus, Kerry J Schimenti, Marilyn J O'Brien, John J Eppig, John C Schimenti
Published 2007-08-01

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

by Melanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, Jennifer N. Rauch, Rocio Bengoechea, William W. Motley, E. F. Elsiena Kuiper, Melania Minoia, Gabriel V. Furtado, Maria A. W. H. van Waarde, Shawn J. Bird, Adriana Rebelo, Stephan Zuchner, Peter Pytel, Steven S. Scherer, Federica F. Morelli, Serena Carra, Conrad C. Weihl, Steven Bergink, Jason E. Gestwicki, Harm H. Kampinga
Published 2018-12-01