Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation

por Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.
Publicado 2018

Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated gene Zmynd11 prior to onset of motor symptoms

por Narayanan, Ramesh K., Panwar, Ajay, Butler, Tim J., Cutrupi, Anthony N., Kennerson, Marina, Vucic, Steve, Ashokkumar, Balasubramaniem, Mangelsdorf, Marie, Wallace, Robyn H.
Publicado 2023

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

por Perez-Siles, Gonzalo, Cutrupi, Anthony, Ellis, Melina, Kuriakose, Jakob, La Fontaine, Sharon, Mao, Di, Uesugi, Motonari, Takata, Reinaldo I., Speck-Martins, Carlos E., Nicholson, Garth, Kennerson, Marina L.
Publicado 2020

Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy

por Cutrupi, Anthony N, Narayanan, Ramesh K, Perez-Siles, Gonzalo, Grosz, Bianca R, Lai, Kaitao, Boyling, Alexandra, Ellis, Melina, Lin, Ruby C Y, Neumann, Brent, Mao, Di, Uesugi, Motonari, Nicholson, Garth A, Vucic, Steve, Saporta, Mario A, Kennerson, Marina L
Publicado 2022