Publications

Found 2 results
Author Title Type [ Year(Desc)]
Filters: Keyword is Mutation, Missense  [Clear All Filters]
2017
Fil D, DeLoach A, Yadav S, Alkam D, MacNicol M, Singh A, Compadre CM, Goellner JJ, O'Brien CA, Fahmi T et al..  2017.  Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease.. Hum Mol Genet. 26(4):686-701.
2018
Guiberson NGuy Lewis, Pineda A, Abramov D, Kharel P, Carnazza KE, Wragg RT, Dittman JS, BurrĂ© J.  2018.  Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones.. Nat Commun. 9(1):3986.