Hyperactivation of HUSH complex function by Charcot–Marie–Tooth disease mutation in MORC2
Tchasovnikarova, Iva A, Timms, Richard T, Douse, Christopher H, Roberts, Rhys C, Dougan, Gordon, Kingston, Robert E, Modis, Yorgo, Lehner, Paul J
Published in Nature genetics (01.07.2017)
Published in Nature genetics (01.07.2017)
Get full text
Journal Article
Ideal factoriality, semistar operations, and quasiprincipal Ideals
Gates, S. G., Juett, J. R., Ndungu, Lois W., Roberts, Rhys D.
Published in Communications in algebra (02.08.2024)
Published in Communications in algebra (02.08.2024)
Get full text
Journal Article
Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis
Sahlender, Daniela A, Roberts, Rhys C, Arden, Susan D, Spudich, Giulietta, Taylor, Marcus J, Luzio, J. Paul, Kendrick-Jones, John, Buss, Folma
Published in The Journal of cell biology (25.04.2005)
Published in The Journal of cell biology (25.04.2005)
Get full text
Journal Article
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease
Edgar, James R, Ho, Anita K, Laurá, Matilde, Horvath, Rita, Reilly, Mary M, Luzio, J Paul, Roberts, Rhys C
Published in Acta neuropathologica communications (15.10.2020)
Published in Acta neuropathologica communications (15.10.2020)
Get full text
Journal Article
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot–Marie–Tooth disease type 4C
Roberts, Rhys C., Peden, Andrew A., Buss, Folma, Bright, Nicholas A., Latouche, Morwena, Reilly, Mary M., Kendrick-Jones, John, Luzio, J. Paul
Published in Human molecular genetics (15.03.2010)
Published in Human molecular genetics (15.03.2010)
Get full text
Journal Article
Characterisation of the membrane topology and molecular structure of LITAF to provide insights into the molecular pathogenesis of Charcot-Marie-Tooth disease type 1C
Roberts, Rhys, Dr, Ho, Anita, MSc, Wagstaff, Jane, PhD, Garman, Elspeth, Prof, Freund, Stefan, PhD
Published in The Lancet (British edition) (25.02.2016)
Published in The Lancet (British edition) (25.02.2016)
Get full text
Journal Article
Myosin VI Binds to and Localises with Dab2, Potentially Linking Receptor‐Mediated Endocytosis and the Actin Cytoskeleton
Morris, Shelli M., Arden, Susan D., Roberts, Rhys C., Kendrick‐Jones, John, Cooper, Jonathan A., Luzio, J. Paul, Buss, Folma
Published in Traffic (Copenhagen, Denmark) (01.05.2002)
Published in Traffic (Copenhagen, Denmark) (01.05.2002)
Get full text
Journal Article
The Emery–Dreifuss muscular dystrophy associated‐protein emerin is phosphorylated on serine 49 by protein kinase A
Roberts, Rhys C., Sutherland‐Smith, Andrew J., Wheeler, Matthew A., Norregaard Jensen, Ole, Emerson, Lindsay J., Spiliotis, Ioannis I., Tate, Christopher G., Kendrick‐Jones, John, Ellis, Juliet A.
Published in The FEBS journal (01.10.2006)
Published in The FEBS journal (01.10.2006)
Get full text
Journal Article
Myosin VI: cellular functions and motor properties
Holmes, K. C., Trentham, D. R., Simmons, R., Roberts, Rhys, Lister, Ida, Schmitz, Stephan, Walker, Matthew, Veigel, Claudia, Trinick, John, Buss, Folma, Kendrick-Jones, John
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (29.12.2004)
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (29.12.2004)
Get full text
Journal Article
IgG1 pan-neurofascin antibodies identify a severe yet treatable neuropathy with a high mortality
Fehmi, Janev, Davies, Alexander J, Walters, Jon, Lavin, Timothy, Keh, Ryan, Rossor, Alexander M, Munteanu, Tudor, Delanty, Norman, Roberts, Rhys, Bäumer, Dirk, Lennox, Graham, Rinaldi, Simon
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2021)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2021)
Get full text
Journal Article
COVID-19 vaccination and Guillain-Barré syndrome: analyses using the National Immunoglobulin Database
Keh, Ryan Y S, Scanlon, Sophie, Datta-Nemdharry, Preeti, Donegan, Katherine, Cavanagh, Sally, Foster, Mark, Skelland, David, Palmer, James, Machado, Pedro M, Keddie, Stephen, Carr, Aisling S, Lunn, Michael P
Published in Brain (London, England : 1878) (13.02.2023)
Published in Brain (London, England : 1878) (13.02.2023)
Get full text
Journal Article
Fatigue and anxiety mediate the effect of dyspnea on quality of life in amyotrophic lateral sclerosis
Young, Carolyn, Ealing, John, McDermott, Christopher, Williams, Tim, Al-Chalabi, Ammar, Majeed, Tahir, Roberts, Rhys, Mills, Roger, Tennant, Alan
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2022)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2022)
Get full text
Journal Article
IgG1 pan-neurofascin antibodies define a severe and frequently fatal GBS-like neuropathy which responds to rituximab
Fehmi, Janev, Jon Walters, R, Lavin, Tim, Keh, Ryan, Rossor, Alexander M, Munteanu, Tudor, Delanty, Norman, Roberts, Rhys, Baumer, Dirk, Rinaldi, Simon
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
Get full text
Journal Article