Muscular Dystrophy—The Facts

Por Hilton-Jones, David
Publicado em 1995

Dystrophin: Gene, Protein and Cell Biology

Por Hilton-Jones, David
Publicado em 1997

Neuromuscular Disorders: Clinical and Molecular Genetics

Por Hilton-Jones, David
Publicado em 1999

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

Por Willis, Tracey, Roberts, Mark, Hilton-Jones, David, Quinlivan, Ros, Hanna, Mike, Straub, Volker
Publicado em 2013

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

Por Brady, Stefen, Squier, Waney, Sewry, Caroline, Hanna, Michael, Hilton-Jones, David, Holton, Janice L
Publicado em 2014

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

Por Benveniste, Olivier, Stenzel, Werner, Hilton-Jones, David, Sandri, Marco, Boyer, Olivier, van Engelen, Baziel G. M.
Publicado no Acta Neuropathol (2015)

A protocol to develop clinical guidelines for inclusion‐body myositis

Por Jones, Katherine L., Sejersen, Thomas, Amato, Anthony A., Hilton‐Jones, David, Schmidt, Jens, Wallace, Amanda C., Badrising, Umesh A., Rose, Michael R.
Publicado no Muscle Nerve (2016)

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

Por Wigley, Ralph, Scalco, Renata S., Gardiner, Alice R., Godfrey, Richard, Booth, Suzanne, Kirk, Richard, Hilton‐Jones, David, Houlden, Henry, Heales, Simon, Quinlivan, Ros
Publicado no JIMD Rep (2019)

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene

Por Sarkozy, Anna, Windpassinger, Christian, Hudson, Judith, Dougan, Charlotte F, Lecky, Bryan, Hilton-Jones, David, Eagle, Michelle, Charlton, Richard, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate, Straub, Volker
Publicado em 2011

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

Por 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
Publicado no J Neurol (2015)

Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis

Por Rodríguez Cruz, Pedro M., Al-Hajjar, Michal, Huda, Saif, Jacobson, Leslie, Woodhall, Mark, Jayawant, Sandeep, Buckley, Camilla, Hilton-Jones, David, Beeson, David, Vincent, Angela, Leite, Maria Isabel, Palace, Jacqueline
Publicado no JAMA Neurol (2015)

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

Por 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
Publicado no J Neurol (2016)

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

Por 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
Publicado no Orphanet J Rare Dis (2014)

IgG-specific cell-based assay detects potentially pathogenic MuSK-Abs in seronegative MG

Por Huda, Saif, Waters, Patrick, Woodhall, Mark, Leite, Maria Isabel, Jacobson, Leslie, De Rosa, Anna, Maestri, Michelangelo, Ricciardi, Roberta, Heckmann, Jeannine M., Maniaol, Angelina, Evoli, Amelia, Cossins, Judy, Hilton-Jones, David, Vincent, Angela
Publicado no Neurol Neuroimmunol Neuroinflamm (2017)

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 no Muscle Nerve (2017)

Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA

Por Price, Mark A., Barghout, Victoria, Benveniste, Olivier, Christopher-Stine, Lisa, Corbett, Alastair, de Visser, Marianne, Hilton-Jones, David, Kissel, John T., Lloyd, Thomas E., Lundberg, Ingrid E., Mastaglia, Francis, Mozaffar, Tahseen, Needham, Merrilee, Schmidt, Jens, Sivakumar, Kumaraswamy, DeMuro, Carla, Tseng, Brian S.
Publicado no J Neuromuscul Dis (2016)

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

Por Lukacs, Zoltan, Nieves Cobos, Paulina, Wenninger, Stephan, Willis, Tracey A., Guglieri, Michela, Roberts, Marc, Quinlivan, Rosaline, Hilton-Jones, David, Evangelista, Teresinha, Zierz, Stephan, Schlotter-Weigel, Beate, Walter, Maggie C., Reilich, Peter, Klopstock, Thomas, Deschauer, Marcus, Straub, Volker, Müller-Felber, Wolfgang, Schoser, Benedikt
Publicado no Neurology (2016)

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 no J Neurol (2017)

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

Por Shatunov, Alexey, Olivé, Montse, Odgerel, Zagaa, Stadelmann-Nessler, Christine, Irlbacher, Kerstin, van Landeghem, Frank, Bayarsaikhan, Munkhuu, Lee, Hee-Suk, Goudeau, Bertrand, Chinnery, Patrick F, Straub, Volker, Hilton-Jones, David, Damian, Maxwell S, Kaminska, Anna, Vicart, Patrick, Bushby, Kate, Dalakas, Marinos C, Sambuughin, Nyamkhishig, Ferrer, Isidro, Goebel, Hans H, Goldfarb, Lev G
Publicado em 2009

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

Por 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
Publicado em 2010