Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4 N Elia, J Palmio, MS Castañeda, PB Shieh, M Quinonez, T Suominen, ... Neurology 92 (13), e1405-e1415, 2019 | 28 | 2019 |
Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A N Elia, T Nault, HJ McMillan, GE Graham, L Huang, SC Cannon Frontiers in neurology 11, 77, 2020 | 12 | 2020 |
Mouse Models of Periodic Paralysis in Andersen Tawil Syndrome and Functional Studies of Novel Nav1. 4 Mutations in Myotonia & Myopathy NC Elia University of California, Los Angeles, 2020 | | 2020 |
A Skeletal Muscle Conditional KCNJ2 Knock-Out Mouse Model for Periodic Paralysis in Andersen-Tawil Syndrome N Elia, E Mokhonova, M Quinonez, S Cannon Biophysical Journal 116 (3), 242a, 2019 | | 2019 |
NaV1. 4 Loss of Function Changes for Recessively Inherited Myopathy with Fluctuating Weakness N Elia, P Shieh, M Quinonez, S Cannon Biophysical Journal 114 (3), 632a, 2018 | | 2018 |
Myotonia therapy through Nav channel slow inactivation P Chen, V Medepalli, S Dhillon, X Xiong, N Elia, A Montalvo, M Rogawski, ... The FASEB Journal 30 (1 Supplement), 1224.50-1224.50, 2016 | | 2016 |