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 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 2015

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

por 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
Publicado 2017

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

por 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
Publicado 2017

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 2013

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

por 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.
Publicado 2011

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

por Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea, Steinlin, Maja, Kuster, Alice, Mercier, Sandra, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B., Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G., Taylor, J. Paul
Publicado 2022