Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature...

por Zambon, Alberto Andrea, Natali Sora, Maria Grazia, Cantarella, Giovanna, Cerri, Federica, Quattrini, Angelo, Comi, Giancarlo, Previtali, Stefano Carlo, Bolino, Alessandra
Publicado 2017

Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth

por Sawade, Linda, Grandi, Federica, Mignanelli, Marianna, Patiño-López, Genaro, Klinkert, Kerstin, Langa-Vives, Francina, Di Guardo, Roberta, Echard, Arnaud, Bolino, Alessandra, Haucke, Volker
Publicado 2020

Therapeutic advantages of combined gene/cell therapy strategies in a murine model of GM2 gangliosidosis

por Sala, Davide, Ornaghi, Francesca, Morena, Francesco, Argentati, Chiara, Valsecchi, Manuela, Alberizzi, Valeria, Di Guardo, Roberta, Bolino, Alessandra, Aureli, Massimo, Martino, Sabata, Gritti, Angela
Publicado 2022

Foot Pad Skin Biopsy in Mouse Models of Hereditary Neuropathy

por Dacci, Patrizia, Dina, Giorgia, Cerri, Federica, Previtali, Stefano Carlo, Lopez, Ignazio Diego, Lauria, Giuseppe, Feltri, Maria Laura, Bolino, Alessandra, Comi, Giancarlo, Wrabetz, Lawrence, Quattrini, Angelo
Publicado 2010

Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies

por Vaccari, Ilaria, Dina, Giorgia, Tronchère, Hélène, Kaufman, Emily, Chicanne, Gaëtan, Cerri, Federica, Wrabetz, Lawrence, Payrastre, Bernard, Quattrini, Angelo, Weisman, Lois S., Meisler, Miriam H., Bolino, Alessandra
Publicado 2011

Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy

por Ricca, Alessandra, Rufo, Nicole, Ungari, Silvia, Morena, Francesco, Martino, Sabata, Kulik, Wilem, Alberizzi, Valeria, Bolino, Alessandra, Bianchi, Francesca, Del Carro, Ubaldo, Biffi, Alessandra, Gritti, Angela
Publicado 2015

Urokinase Plasminogen Receptor and the Fibrinolytic Complex Play a Role in Nerve Repair after Nerve Crush in Mice, and in Human Neuropathies

por Rivellini, Cristina, Dina, Giorgia, Porrello, Emanuela, Cerri, Federica, Scarlato, Marina, Domi, Teuta, Ungaro, Daniela, Carro, Ubaldo Del, Bolino, Alessandra, Quattrini, Angelo, Comi, Giancarlo, Previtali, Stefano C.
Publicado 2012

Niacin‐mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

por Bolino, Alessandra, Piguet, Françoise, Alberizzi, Valeria, Pellegatta, Marta, Rivellini, Cristina, Guerrero‐Valero, Marta, Noseda, Roberta, Brombin, Chiara, Nonis, Alessandro, D'Adamo, Patrizia, Taveggia, Carla, Previtali, Stefano Carlo
Publicado 2016

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis

por Bolino, Alessandra, Bolis, Annalisa, Previtali, Stefano Carlo, Dina, Giorgia, Bussini, Simona, Dati, Gabriele, Amadio, Stefano, Del Carro, Ubaldo, Mruk, Dolores D., Feltri, Maria Laura, Cheng, C. Yan, Quattrini, Angelo, Wrabetz, Lawrence
Publicado 2004

Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold

por Noseda, Roberta, Guerrero-Valero, Marta, Alberizzi, Valeria, Previtali, Stefano C., Sherman, Diane L., Palmisano, Marilena, Huganir, Richard L., Nave, Klaus-Armin, Cuenda, Ana, Feltri, Maria Laura, Brophy, Peter J., Bolino, Alessandra
Publicado 2016

PI(3,5)P(2) biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms

por Mironova, Yevgeniya A, Lenk, Guy M, Lin, Jing-Ping, Lee, Seung Joon, Twiss, Jeffery L, Vaccari, Ilaria, Bolino, Alessandra, Havton, Leif A, Min, Sang H, Abrams, Charles S, Shrager, Peter, Meisler, Miriam H, Giger, Roman J
Publicado 2016

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

por Vaccari, Ilaria, Carbone, Antonietta, Previtali, Stefano Carlo, Mironova, Yevgeniya A., Alberizzi, Valeria, Noseda, Roberta, Rivellini, Cristina, Bianchi, Francesca, Del Carro, Ubaldo, D'Antonio, Maurizio, Lenk, Guy M., Wrabetz, Lawrence, Giger, Roman J., Meisler, Miriam H., Bolino, Alessandra
Publicado 2015

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