Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII)

by Buch, Astrid Emilie, Musumeci, Olimpia, Wigley, Ralph, Stemmerik, Mads Peter Godtfeldt, Eisum, Anne‐Sofie Vibæk, Madsen, Karen Lindhardt, Preisler, Nicolai, Hilton‐Jones, David, Quinlivan, Ros, Toscano, Antonio, Vissing, John
Published in JIMD reports

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 in Acta neuropathologica

International Workshop on Inclusion Body Myositis held at the Institute of Myology, Paris, on 29 May 2009

by Benveniste, Olivier, Hilton-Jones, David
Published in Neuromuscular disorders : NMD

The need for biochemical testing in beta‐enolase deficiency in the genomic era

by Wigley, Ralph, Scalco, Renata S., Gardiner, Alice R., Godfrey, Richard, Booth, Suzanne, Kirk, Richard, Hilton‐Jones, David, Houlden, Henry, Heales, Simon, Quinlivan, Ros
Published in JIMD reports

Physical training for McArdle disease

by Quinlivan, Rosaline, Vissing, John, Hilton-Jones, David, Buckley, John
Published in Cochrane database of systematic reviews

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands

by De Bleecker, Jan L, De Paepe, Boel, Aronica, Eleonora, de Visser, Marianne, Amato, Anthony, Benveniste, Olivier, De Bleecker, Jan, de Boer, Onno, Dimachkie, Mazen, Gherardi, Romain, Goebel, Hans Hilmar, Hilton-Jones, David, Holton, Janice, Lundberg, Ingrid E, Mammen, Andrew, Mastaglia, Frank, Nishino, Ichizo, Rushing, Elisabeth, Daa Schroder, Henrik, Selcen, Duygu, Stenzel, Werner
Published in Neuromuscular disorders : NMD

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 in BMJ open

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands

by Evangelista, Teresinha, Weihl, Conrad C., Kimonis, Virginia, Lochmüller, Hanns, Clemen, Christoph, Deshaies, Ray, Evangelista, Teresinha, Eymard, Bruno, Greensmith, Linda, Hilton-Jones, David, Kimonis, Virginia, Kley, Rudy, Lochmüller, Hanns, Meyer, Hemmo, Mozaffar, Tahseen, Noguchi, Satoru, Ralston, Stuart, Ridha, Basil, Udd, Bjarne, Weihl, Conrad, Brumhard, Matthias, Brumhard, Sarah
Published in Neuromuscular disorders : NMD

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 in Journal of neurology

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools ag...

by Diot, Alan, Hinks-Roberts, Alex, Lodge, Tiffany, Liao, Chunyan, Dombi, Eszter, Morten, Karl, Brady, Stefen, Fratter, Carl, Carver, Janet, Muir, Rebecca, Davis, Ryan, Green, Charlotte J, Johnston, Iain, Hilton-Jones, David, Sue, Carolyn, Mortiboys, Heather, Poulton, Joanna
Published in Pharmacological research

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

by Zimoń, Magdalena, Baets, Jonathan, Auer-Grumbach, Michaela, Berciano, José, Garcia, Antonio, Lopez-Laso, Eduardo, Merlini, Luciano, Hilton-Jones, David, McEntagart, Meriel, Crosby, Andrew H., Barisic, Nina, Boltshauser, Eugen, Shaw, Christopher E., Landouré, Guida, Ludlow, Christy L., Gaudet, Rachelle, Houlden, Henry, Reilly, Mary M., Fischbeck, Kenneth H., Sumner, Charlotte J., Timmerman, Vincent, Jordanova, Albena, Jonghe, Peter De
Published in Brain (London, England : 1878)

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

by 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
Published in Journal of neurology

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 in Neurobiology of aging

224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14–16 October 2016

by Allenbach, Yves, Mammen, Andrew L., Benveniste, Olivier, Stenzel, Werner, Allenbach, Yves, Amato, Anthony, Aussey, Audrey, Benveniste, Olivier, De Bleecker, Jan, de Groot, Ingrid, de Visser, Marianne, Goebel, Hans, Hervier, Baptiste, Fischer, Norina, Hilton-Jones, David, Lamb, Janice, Lundberg, Ingrid, Mammen, Andrew, Mozaffar, Tahseen, Nishino, Ichizo, Pestronk, Alan, Schara, Ulrike, Stenzelr, Werner
Published in Neuromuscular disorders : NMD

Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial

by Kuo, Hui-Chien, Marx, Alexander, Ströbel, Philipp, Oger, Joel, Evoli, Amelia, Antonini, Giovanni, Witoonpanich, Rawiphan, Barboi, Alexandru C, Amato, Anthony A, Katirji, Bashar, Lecky, Bryan R F, Buckley, Camilla, Massey, Janice M, Barohn, Richard J, Conwit, Robin, Sonett, Joshua R, Kuo, Hui-Chien, Mazia, Claudio, Saluto, Valeria, Dias-Tosta, Elza, Morato-Fernandez, Rubens, Scola, Rosana, Mezei, Michele, White, Chris, Aguayo, Alberto, Zickler, Philipp, Klein, Michael, Weis, Cleo-Aron, Melms, Arthur, Bischof, Felix, Thümler, Björn, Mayer, Eckhard, Clemenzi, Alessandro, Rendina, Erino, Clerico, Marinella, Evoli, Amelia, Mantegazza, Renato, Berta, Emilia, Spinelli, Luisa, Matsuo, Hidenori, Noto, Daisuke, Garcia Ramos, Guillermo, Lipowska, Marta, Silva, Ana, Tucker, Lawrence, Rossouw, Johan, Drummond, Fiona, Yeh, Jiann-Horng, Chiu, Hou-Chang, Witoonpanich, Rawiphan, Attanavanich, Sukasom, Straathof, Chiara, Versteegh, Michel, Krum, Yvonne, Buckley, Camilla, Marshall, Dot, Sussman, Jon, Salajegheh, Mohammad, Zwischenberg, Joseph, Yellick, Mary, Kramer, Jeffrey, Herbelin, Laura, Belsh, Jerry, Langenfeld, John, Benatar, Michael, Usher, Sharon, DeMeester, Steve, Fisher, Janet, Heatwole, Chad, Distad, B. Jane, Weiss, Michael, Chmielewski, Gary, Welsh, Robert, Pawar, Gauri, Jackson, Carlayne, Calhoon, John, Kittrell, Pamela, Hayat, Ghazala, Naunheim, Keith, Holzemer, Eve, Alshekhlee, Amer, Miller, Robert, Forshew, Dallas, Juel, Vern, Lipscomb, Bernadette, Milliken, Jeffrey, Martin, Veronica, Muley, Suraj, Cerfolio, Robert, Young, Angela, Guingrich, Sandy, Michaels, Angi, Fischer, Cindy, Rivner, Michael, Pruitt, Jerry, Hillman, Demetric, Ruel, Ross, Sivak, Mark, Leavitt, Bruce, Vernino, Steven
Published in Lancet neurology

Long-term observational study of sporadic inclusion body myositis

by Benveniste, Olivier, Guiguet, Marguerite, Freebody, Jane, Dubourg, Odile, Squier, Waney, Maisonobe, Thierry, Stojkovic, Tanya, Leite, Maria Isabel, Allenbach, Yves, Herson, Serge, Brady, Stefen, Eymard, Bruno, Hilton-Jones, David
Published in Brain (London, England : 1878)

Myasthenia gravis

by Vincent, Angela, Palace, Jackie, Hilton-Jones, David
Published in The Lancet (British edition)

Comparison of clinical features between patients with anti-synthetase syndrome and dermatomyositis: Results from the MYONET registry

by Hum, Ryan Malcolm, Lilleker, James B, Lamb, Janine A, Oldroyd, Alexander G S, Wang, Guochun, Wedderburn, Lucy R, Diederichsen, Louise P, Schmidt, Jens, Danieli, Maria Giovanna, Oakley, Paula, Griger, Zoltan, Phuong, Thuy Nguyen Thi, Kodishala, Chanakya, Vazquez-Del Mercado, Monica, Andersson, Helena, De Paepe, Boel, De Bleecker, Jan L, Maurer, Britta, McCann, Liza, Pipitone, Nicolo, McHugh, Neil, New, Robert Paul, Ollier, William E, Krogh, Niels Steen, Vencovsky, Jiri, Lundberg, Ingrid E, Chinoy, Hector
Published in Rheumatology (Oxford, England)

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 in Neurobiology of aging

Genetic background may contribute to the latitude-dependent prevalence of dermatomyositis and anti-TIF1-γ autoantibodies in adult patients with myositis

by Parkes, Joanna E, Rothwell, Simon, Oldroyd, Alexander, Chinoy, Hector, Lamb, Janine A
Published in Arthritis research & therapy