Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit

by Willis, Tracey, Roberts, Mark, Hilton-Jones, David, Quinlivan, Ros, Hanna, Mike, Straub, Volker
Published 2013

A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis

by Brady, Stefen, Squier, Waney, Sewry, Caroline, Hanna, Michael, Hilton-Jones, David, Holton, Janice L
Published 2014

Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken

by Benveniste, Olivier, Stenzel, Werner, Hilton-Jones, David, Sandri, Marco, Boyer, Olivier, van Engelen, Baziel G. M.
Published 2015

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

by Bansagi, Boglarka, Antoniadi, Thalia, Burton-Jones, Sarah, Murphy, Sinead M., McHugh, John, Alexander, Michael, Wells, Richard, Davies, Joanna, Hilton-Jones, David, Lochmüller, Hanns, Chinnery, Patrick, Horvath, Rita
Published 2015

A protocol to develop clinical guidelines for inclusion‐body myositis

by Jones, Katherine L., Sejersen, Thomas, Amato, Anthony A., Hilton‐Jones, David, Schmidt, Jens, Wallace, Amanda C., Badrising, Umesh A., Rose, Michael R.
Published 2016

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

by Wood, Libby, Evangelista, Teresinha, Norwood, Fiona, Orrell, Richard, Pohlschmidt, Marita, Busby, Mark, Graham, Andrew, Hilton-Jones, David, Longman, Cheryl, Lunt, Peter, Roberts, Mark, Watt, Stuart, Watt, Suzanne, Willis, Tracey, Lochmüller, Hanns
Published 2014

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry

by Evangelista, Teresinha, Wood, Libby, Fernandez-Torron, Roberto, Williams, Maggie, Smith, Debbie, Lunt, Peter, Hudson, Judith, Norwood, Fiona, Orrell, Richard, Willis, Tracey, Hilton-Jones, David, Rafferty, Karen, Guglieri, Michela, Lochmüller, Hanns
Published 2016

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

by Gang, Qiang, Bettencourt, Conceicao, Machado, Pedro M., Fox, Zoe, Brady, Stefen, Healy, Estelle, Parton, Matt, Holton, Janice L., Hilton-Jones, David, Shieh, Perry B., Zanoteli, Edmar, De Paepe, Boel, De Bleecker, Jan, Shaibani, Aziz, Ripolone, Michela, Violano, Raffaella, Moggio, Maurizio, Barohn, Richard J., Dimachkie, Mazen M., Mora, Marina, Mantegazza, Renato, Zanotti, Simona, Hanna, Michael G., Houlden, Henry
Published 2015

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

by Gang, Qiang, Bettencourt, Conceição, Machado, Pedro M., Brady, Stefen, Holton, Janice L., Pittman, Alan M., Hughes, Deborah, Healy, Estelle, Parton, Matthew, Hilton-Jones, David, Shieh, Perry B., Needham, Merrilee, Liang, Christina, Zanoteli, Edmar, de Camargo, Leonardo Valente, De Paepe, Boel, De Bleecker, Jan, Shaibani, Aziz, Ripolone, Michela, Violano, Raffaella, Moggio, Maurizio, Barohn, Richard J., Dimachkie, Mazen M., Mora, Marina, Mantegazza, Renato, Zanotti, Simona, Singleton, Andrew B., Hanna, Michael G., Houlden, Henry
Published 2016