Blood pressure-independent effects of enhanced NO/cGMP signalling and gender on aortic remodelling in experimental renal hypertension

por Grosz, Bianca, Krämer, Stephanie, Loof, Tanja, Neumayer, Hans H, Wang-Rosenke, Yingrui, Peters, Harm
Publicado 2009

Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1

por Grosz, Bianca R., Svaren, John, Perez-Siles, Gonzalo, Nicholson, Garth A., Kennerson, Marina L.
Publicado 2021

Identity-by-descent analysis of CMTX3 links three families through a common founder

por Henden, Lyndal, Grosz, Bianca R., Ellis, Melina, Nicholson, Garth A., Kennerson, Marina, Williams, Kelly L.
Publicado 2022

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)

por Grosz, Bianca R., Golovchenko, Natasha B., Ellis, Melina, Kumar, Kishore, Nicholson, Garth A., Antonellis, Anthony, Kennerson, Marina L.
Publicado 2019

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing

por Grosz, Bianca R., Tisch, Stephen, Tchan, Michel C., Fung, Victor S. C., Darveniza, Paul, Fellner, Avi, Kurian, Manju A., McLean, Alison, Tomlinson, Susan E., Smyth, Renee, Devery, Sophie, Wu, Kathy H. C., Kennerson, Marina L., Kumar, Kishore R.
Publicado 2022

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

Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

por Cipriani, Silvia, Guerrero‐Valero, Marta, Tozza, Stefano, Zhao, Edward, Vollmer, Veith, Beijer, Danique, Danzi, Matt, Rivellini, Cristina, Lazarevic, Dejan, Pipitone, Giovanni Battista, Grosz, Bianca Rose, Lamperti, Costanza, Marzoli, Stefania Bianchi, Carrera, Paola, Devoto, Marcella, Pisciotta, Chiara, Pareyson, Davide, Kennerson, Marina, Previtali, Stefano C., Zuchner, Stephan, Scherer, Steven S., Manganelli, Fiore, Bähler, Martin, Bolino, Alessandra
Publicado 2022