Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

by Spataro, Rossella, Kousi, Maria, Farhan, Sali M K, Willer, Jason R, Ross, Jay P, Dion, Patrick A, Rouleau, Guy A, Daly, Mark J, Neale, Benjamin M, La Bella, Vincenzo, Katsanis, Nicholas
Published 2020

Novel genetic variants in MAPT and alterations in tau phosphorylation in amyotrophic lateral sclerosis post-mortem motor cortex and cerebrospinal fluid

by Amaral, A.C, Arnold, S.E, Berry, J.D, Bordt, E., Chan, J., Commins, C., Connors, T., Cudkowicz, M.E, Dooley, P.M, Dujardin, S., Farhan, S.M.K, Ghosal, A., Gomez-Isla, T., Hyman, B.T, Kim, S.E, Kivisäkk, P., Mills, A.N, Oakley, D.H, Petrozziello, T., Sadri-Vakili, G., Spires-Jones, T., Trombetta, B.A
Published 2022