ADCY5-related dyskinesia presenting as familial myoclonus-dystonia

ανά Douglas, Andrew G. L., Andreoletti, Gaia, Talbot, Kevin, Hammans, Simon R., Singh, Jaspal, Whitney, Andrea, Ennis, Sarah, Foulds, Nicola C.
Τόπος έκδοσης Neurogenetics (2017)

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

ανά Foulds, Nicola, Pengelly, Reuben J., Hammans, Simon R., Nicoll, James A. R., Ellison, David W., Ditchfield, Adam, Beck, Sarah, Ennis, Sarah
Τόπος έκδοσης Sci Rep (2015)

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

ανά 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
Έκδοση 2013

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

ανά 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.
Έκδοση 2013

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

ανά 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
Τόπος έκδοσης Brain (2015)