Acetyl-leucine slows disease progression in lysosomal storage disorders

por Kaya, Ecem, Smith, David A, Smith, Claire, Morris, Lauren, Bremova-Ertl, Tatiana, Cortina-Borja, Mario, Fineran, Paul, Morten, Karl J, Poulton, Joanna, Boland, Barry, Spencer, John, Strupp, Michael, Platt, Frances M
Publicado 2020

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

por Cortina-Borja, Mario, te Vruchte, Danielle, Mengel, Eugen, Amraoui, Yasmin, Imrie, Jackie, Jones, Simon A., i Dali, Christine, Fineran, Paul, Kirkegaard, Thomas, Runz, Heiko, Lachmann, Robin, Bremova-Ertl, Tatiana, Strupp, Michael, Platt, Frances M.
Publicado 2018

Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway

por Fineran, Paul, Lloyd-Evans, Emyr, Lack, Nathan A., Platt, Nick, Davis, Lianne C., Morgan, Anthony J., Höglinger, Doris, Tatituri, Raju Venkata V., Clark, Simon, Williams, Ian M., Tynan, Patricia, Al Eisa, Nada, Nazarova, Evgeniya, Williams, Ann, Galione, Antony, Ory, Daniel S., Besra, Gurdyal S., Russell, David G., Brenner, Michael B., Sim, Edith, Platt, Frances M.
Publicado 2017