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

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Advances and challenges in modeling inherited peripheral neuropathies using iPSCs by Van Lent, Jonas, Prior, Robert, Pérez Siles, Gonzalo, Cutrupi, Anthony N., Kennerson, Marina L., Vangansewinkel, Tim, Wolfs, Esther, Mukherjee-Clavin, Bipasha, Nevin, Zachary, Judge, Luke, Conklin, Bruce, Tyynismaa, Henna, Clark, Alex J., Bennett, David L., Van Den Bosch, Ludo, Saporta, Mario, Timmerman, Vincent

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A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34–q36.2 by Drew, Alexander P., Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.

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Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated gene Zmynd11 prior to onset of motor symptoms by Narayanan, Ramesh K, Panwar, Ajay, Butler, Tim J, Cutrupi, Anthony N, Kennerson, Marina, Vucic, Steve, Ashokkumar, Balasubramaniem, Mangelsdorf, Marie, Wallace, Robyn H

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

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Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation by Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.

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