ADCY5-related dyskinesia presenting as familial myoclonus-dystonia

por Douglas, Andrew G. L., Andreoletti, Gaia, Talbot, Kevin, Hammans, Simon R., Singh, Jaspal, Whitney, Andrea, Ennis, Sarah, Foulds, Nicola C.
Publicado no Neurogenetics (2017)

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

por Foulds, Nicola, Pengelly, Reuben J., Hammans, Simon R., Nicoll, James A. R., Ellison, David W., Ditchfield, Adam, Beck, Sarah, Ennis, Sarah
Publicado no Sci Rep (2015)

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

por Blakely, Emma L, Yarham, John W, Alston, Charlotte L, Craig, Kate, Poulton, Joanna, Brierley, Charlotte, Park, Soo-Mi, Dean, Andrew, Xuereb, John H, Anderson, Kirstie N, Compston, Alistair, Allen, Chris, Sharif, Saba, Enevoldson, Peter, Wilson, Martin, Hammans, Simon R, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W
Publicado em 2013

New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

por Hogarth, Penelope, Gregory, Allison, Kruer, Michael C., Sanford, Lynn, Wagoner, Wendy, Natowicz, Marvin R., Egel, Robert T., Subramony, S.H., Goldman, Jennifer G., Berry-Kravis, Elizabeth, Foulds, Nicola C., Hammans, Simon R., Desguerre, Isabelle, Rodriguez, Diana, Wilson, Callum, Diedrich, Andrea, Green, Sarah, Tran, Huong, Reese, Lindsay, Woltjer, Randall L., Hayflick, Susan J.
Publicado em 2013

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

por Halter, Joerg P., Michael, W., Schüpbach, M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Pinto Simoes, Belinda, Hammans, Simon R., Savage, David, Martí, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, Hirano, Michio
Publicado no Brain (2015)