A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer

por Mucaki, Eliseos J., Caminsky, Natasha G., Perri, Ami M., Lu, Ruipeng, Laederach, Alain, Halvorsen, Matthew, Knoll, Joan H. M., Rogan, Peter K.
Publicado 2016

An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice

por Nitschke, Silvia, Chown, Erin E., Zhao, Xiaochu, Gabrielian, Shoghig, Petković, Sara, Guisso, Dikran R., Perri, Ami M., Wang, Peixiang, Ahonen, Saija, Nitschke, Felix, Minassian, Berge A.
Publicado 2020

Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease

por Nitschke, Felix, Sullivan, Mitchell A, Wang, Peixiang, Zhao, Xiaochu, Chown, Erin E, Perri, Ami M, Israelian, Lori, Juana‐López, Lucia, Bovolenta, Paola, Rodríguez de Córdoba, Santiago, Steup, Martin, Minassian, Berge A
Publicado 2017

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

por Chown, Erin E., Wang, Peixiang, Zhao, Xiaochu, Crowder, Justin J., Strober, Jordan W., Sullivan, Mitchell A., Xue, Yunlin, Bennett, Cody S., Perri, Ami M., Evers, Bret M., Roach, Peter J., Depaoli‐Roach, Anna A., Akman, H. Orhan, Pederson, Bartholomew A., Minassian, Berge A.
Publicado 2020