WilliamWashburnMotleyMD

PubMed

• 7 citations
  Inducible knockout of Clec16a in mice results in sensory neurodegeneration
  Heather S. Hain, Rahul Pandey, Marina Bakay, Bryan Strenkowski, Danielle Harrington, Micah Romer, William W. Motley, Jian Li, Eunjoo Lancaster, Lindsay M Roth, Judith ...> ;Scientific Reports. 2021 Apr 29
• 4 citations
  Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy
  William W. Motley, Stephan Züchner, Steven S. Scherer> ;Neurology. Genetics. 2020 Jul 31
• 10 citations
  Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy
  Jeremy M. Sullivan, William W. Motley, Janel O. Johnson, William H. Aisenberg, Katherine L. Marshall, Katy E.S. Barwick, Lingling Kong, Jennifer S. Huh, Pamela C. Saav...> ;The Journal of Clinical Investigation. 2020 Mar 2
• 5 citations
  A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.
  Lois Dankwa, Jessica Richardson, William W. Motley, Mena Scavina, Tanya M. Bardakjian, Stephan Züchner, Steven S. Scherer> ;Neuromuscular Disorders. 2019 Feb 1
• 49 citations
  Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks
  Melanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, Jennifer N. Rauch, Rocio Bengoechea, William W. Motley, E. F. Elsiena Kuiper, Melania Minoia, Gabriel...> ;Nature Communications. 2018 Dec 17
• 5 citations
  A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family
  Lois Dankwa, Jessica Richardson, William W. Motley, Stephan Züchner, Steven S. Scherer> ;Journal of the Peripheral Nervous System. 2018 Mar 1
• 20 citations
  Molecular engineering of antibodies for site-specific covalent conjugation using CRISPR/Cas9.
  Makan Khoshnejad, Jacob S. Brenner, William W. Motley, Hamideh Parhiz, Colin F. Greineder, Carlos H. Villa, Oscar A. Marcos-Contreras, Andrew Tsourkas, Vladimir R. Muz...> ;Scientific Reports. 2018 Jan 29
• 38 citations
  Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
  Michaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, Daniela Weinmann, Catharina Chiari, David L.H. Bennett, Christian Beetz, Dennis Klein, Peter M. Andersen, Ilka...> ;American Journal of Human Genetics. 2016 Sep 1
• 30 citations
  De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
  William W. Motley, Paulius Palaima, Sabrina W. Yum, Michael A. Gonzalez, Feifei Tao, Julia Wanschitz, Alleene V. Strickland, Wolfgang Löscher, Els De Vriendt, Stefan K...> ;Brain. 2016 Jun 1
• 38 citations
  Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.
  Stuart F. J. Le Grice, James N. Sleigh, William W. Motley, Ji-Long Liu, Robert W. Burgess, Kevin Talbot, M. Zameel Cader> ;Human Molecular Genetics. 2015 Aug 1
• 30 citations
  A novel AARS mutation in a family with dominant myeloneuropathy
  William W. Motley, Laurie B. Griffin, Inès Mademan, Jonathan Baets, Els De Vriendt, Peter De Jonghe, Anthony Antonellis, Albena Jordanova, Steven S. Scherer> ;Neurology. 2015 May 19
• 31 citations
  CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.
  Biljana Ermanoska, William W. Motley, Ricardo Leitão-Gonçalves, Bob Asselbergh, LaTasha H. Lee, Peter De Rijk, Kristel Sleegers, Tinne Ooms, Tanja A. Godenschwege, Vin...> ;Neurobiology of Disease. 2014 Aug 1
• 11 citations
  A spontaneous mutation in contactin 1 in the mouse.
  Muriel T. Davisson, Roderick T. Bronson, Abigail L. D. Tadenev, William W. Motley, Arjun Krishnaswamy, Kevin L. Seburn, Robert W. Burgess> ;Plos One. 2011 Dec 29
• 96 citations
  Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels
  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...> ;Plos Genetics. 2011 Dec 1
• 52 citations
  Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice
  Deborah Y. Kwon, William W. Motley, Kenneth H. Fischbeck, Barrington G. Burnett> ;Human Molecular Genetics. 2011 Sep 15
• 62 citations
  GARS axonopathy: not every neuron's cup of tRNA.
  William W. Motley, Kevin Talbot, Kenneth H. Fischbeck> ;Trends in Neurosciences. 2010 Feb 1
• 16 citations
  Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease.
  Mamadou Traoré, Guida Landouré, William W. Motley, Modibo Sangare, Katherine Gloria Meilleur, Siaka Y. Coulibaly, Siona Traore, B. Niaré, F. Mochel, A. La Pean, Alexan...> ;Neurogenetics. 2009 Mar 26
• 87 citations
  Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over.
  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. Schimen...> ;Plos Genetics. 2005 Jan 1
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