William W. Motley, D.Phil.

Affiliations: 
Physiology, Anatomy and Genetics University of Oxford, Oxford, United Kingdom 
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"William Motley"
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Publications

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Hain HS, Pandey R, Bakay M, et al. (2021) Inducible knockout of Clec16a in mice results in sensory neurodegeneration. Scientific Reports. 11: 9319
Motley WW, Züchner S, Scherer SS. (2020) Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy. Neurology. Genetics. 6: e496
Sullivan JM, Motley WW, Johnson JO, et al. (2020) Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. The Journal of Clinical Investigation
Dankwa L, Richardson J, Motley WW, et al. (2018) A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscular Disorders : Nmd
Meister-Broekema M, Freilich R, Jagadeesan C, et al. (2018) Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks. Nature Communications. 9: 5342
Dankwa L, Richardson J, Motley WW, et al. (2018) A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. Journal of the Peripheral Nervous System : Jpns
Bengoechea R, Motley W, Bird S, et al. (2017) A novel BAG3 mutation associated with myofibrillar myopathy emphasizes HSP70 dependent activity Neuromuscular Disorders. 27: S120
Auer-Grumbach M, Toegel S, Schabhüttl M, et al. (2016) Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. American Journal of Human Genetics. 99: 607-623
Motley WW, Palaima P, Yum SW, et al. (2016) De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain : a Journal of Neurology
Grice SJ, Sleigh JN, Motley WW, et al. (2015) Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology. Human Molecular Genetics. 24: 4397-406
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