A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H

od Houlden, Henry, Hammans, Simon, Katifi, Haider, Reilly, Mary M.
Wydane 2009

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia

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

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

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

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

od Tajsharghi, Homa, Hammans, Simon, Lindberg, Christopher, Lossos, Alexander, Clarke, Nigel F, Mazanti, Ingrid, Waddell, Leigh B, Fellig, Yakov, Foulds, Nicola, Katifi, Haider, Webster, Richard, Raheem, Olayinka, Udd, Bjarne, Argov, Zohar, Oldfors, Anders
Wydane 2014

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy

od Morís, Germán, Wood, Libby, FernáNdez‐Torrón, Roberto, González Coraspe, José Andrés, Turner, Chris, Hilton‐Jones, David, Norwood, Fiona, Willis, Tracey, Parton, Matt, Rogers, Mark, Hammans, Simon, Roberts, Mark, Househam, Elizabeth, Williams, Maggie, Lochmüller, Hanns, Evangelista, Teresinha
Wydane w Muscle Nerve (2017)

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

od Wood, Libby, Cordts, Isabell, Atalaia, Antonio, Marini-Bettolo, Chiara, Maddison, Paul, Phillips, Margaret, Roberts, Mark, Rogers, Mark, Hammans, Simon, Straub, Volker, Petty, Richard, Orrell, Richard, Monckton, Darren G., Nikolenko, Nikoletta, Jimenez-Moreno, Aura Cecilia, Thompson, Rachel, Hilton-Jones, David, Turner, Chris, Lochmüller, Hanns
Wydane w J Neurol (2017)

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

od 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
Wydane 2013

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

od 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.
Wydane 2013

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

od Klein, Christopher J., Botuyan, Maria-Victoria, Wu, Yanhong, Ward, Christopher J., Nicholson, Garth A., Hammans, Simon, Hojo, Kaori, Yamanishi, Hiromitch, Karpf, Adam R., Wallace, Douglas C., Simon, Mariella, Lander, Cecilie, Boardman, Lisa A., Cunningham, Julie M., Smith, Glenn E., Litchy, William J., Boes, Benjamin, Atkinson, Elizabeth J., Middha, Sumit, Dyck, P. James, Parisi, Joseph E., Mer, Georges, Smith, David I., Dyck, Peter J.
Wydane 2011

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

od 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
Wydane w Brain (2015)