Zobrazeno 1 - 10
of 229
pro vyhledávání: '"David Hilton‐Jones"'
Autor:
Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, Mads Peter Godtfeldt Stemmerik, Anne‐Sofie Vibæk Eisum, Karen Lindhardt Madsen, Nicolai Preisler, David Hilton‐Jones, Ros Quinlivan, Antonio Toscano, John Vissing
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 60-66 (2021)
Abstract Aim To investigate the in vivo skeletal muscle metabolism in patients with β‐enolase deficiency (GSDXIII) during exercise, and the effect of glucose infusion. Methods Three patients with GSDXIII and 10 healthy controls performed a nonisch
Externí odkaz:
https://doaj.org/article/8313443dd69843c1baabfa14bfbebf34
Autor:
Ralph Wigley, Renata S. Scalco, Alice R. Gardiner, Richard Godfrey, Suzanne Booth, Richard Kirk, David Hilton‐Jones, Henry Houlden, Simon Heales, Ros Quinlivan
Publikováno v:
JIMD Reports, Vol 50, Iss 1, Pp 40-43 (2019)
Abstract Glycogen storage disease type XIII (GSDXIII) is a very rare inherited metabolic myopathy characterized by autosomal‐recessive mutations in the ENO3 gene resulting in muscle β‐enolase deficiency, an enzymatic defect of the distal part of
Externí odkaz:
https://doaj.org/article/d63845f6ecd14928a17ec77c31c2009f
Autor:
Lukacs Zoltan, Paulina Nieves Cobos, Stephan Wenninger, Tracey A. Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser
Publikováno v:
Нервно-мышечные болезни, Vol 6, Iss 3, Pp 24-27 (2019)
Externí odkaz:
https://doaj.org/article/4ec0d1645281460598905760d4b17f8a
Autor:
David Hilton-Jones, Martin R. Turner
Part of the Oxford Textbooks in Clinical Neurology series, the Oxford Textbook of Neuromuscular Disorders covers the scientific basis, clinical diagnosis, and treatment of neuromuscular disorders with a particular focus on the most clinically relevan
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
Autor:
Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline Quinlivan, Ashirwad Merve, Renata Scalco, David Hilton-Jones, Henry Houlden, Halil Ibrahim Aydin, Serdar Ceylaner, Sarah Drewes, Jerry Vockley, Rhonda L Taylor, Chiara Folland, Aasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R R Forrest, Mark R Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Cullen O’Gorman, Pamela McCombe, Nigel G Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft
Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic mechanisms, particularly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4bd1d51311f5e2b61ad26c923c76fc7
http://hdl.handle.net/10138/353498
http://hdl.handle.net/10138/353498
Autor:
Jackie Palace, Sithara Ramdas, Ravi Knight, Pinki Munot, Sandeep Jayawant, Stephanie A. Robb, David Beeson, Angela Vincent, Pedro M. Rodríguez Cruz, Domizia Vecchio, Catherine DeVile, Matthew Pitt, Camilla Buckley, David Hilton-Jones
Publikováno v:
Neuromuscular Disorders. 30:120-127
Our aim was to identify clinical outcomes, serological features and possible prognostic indicators of paediatric myasthenia gravis (MG). We collected 74 MG patients with disease onset before the age of 16 years (73% pre-pubertal onset defined as ≤1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b2922089841d6082b4aa3d036d808ba
https://doi.org/10.1016/j.nmd.2019.11.008
https://doi.org/10.1016/j.nmd.2019.11.008
Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis
Autor:
Mari Auranen, Rhonda L. Taylor, Alistair R. R. Forrest, Pamela A. McCombe, Phillips L, Nigel G. Laing, Cabrera-Serrano M, Thierry Capiod, Aydin H, Jerry Vockley, Caccavelli L, Nicholas Manton, Emil Ylikallio, Delonlay P, Drago Bratkovic, Manu Jokela, Mark M. Davis, Henry Houlden, Enrico Bugiardini, David Hilton-Jones, Madrange M, Ceylaner S, Mridul Johari, Hayley Goullee, Henna Tyynismaa, Robertson T, Bjarne Udd, A. Merve, Renata S Scalco, G. Ravenscroft, Ros Quinlivan, Marco Savarese, Anna Vihola, Brady S
Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic mechanisms, particularly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ea052c6e785ca108a71b895459d21c2
https://doi.org/10.1101/2021.06.04.447044
https://doi.org/10.1101/2021.06.04.447044
Autor:
David Hilton-Jones, Anne-Sofie Vibæk Eisum, Karen Lindhardt Madsen, Mads Godtfeldt Stemmerik, Nicolai Preisler, Ralph Wigley, Antonio Toscano, Ros Quinlivan, John Vissing, Astrid Emilie Buch, Olimpia Musumeci
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 60-66 (2021)
Buch, A E, Musumeci, O, Wigley, R, Stemmerik, M P G, Eisum, A S V, Madsen, K L, Preisler, N, Hilton-Jones, D, Quinlivan, R, Toscano, A & Vissing, J 2021, ' Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII) ', JIMD Reports, vol. 61, no. 1, pp. 60-66 . https://doi.org/10.1002/jmd2.12232
JIMD Reports
Buch, A E, Musumeci, O, Wigley, R, Stemmerik, M P G, Eisum, A S V, Madsen, K L, Preisler, N, Hilton-Jones, D, Quinlivan, R, Toscano, A & Vissing, J 2021, ' Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII) ', JIMD Reports, vol. 61, no. 1, pp. 60-66 . https://doi.org/10.1002/jmd2.12232
JIMD Reports
Aim: To investigate the in vivo skeletal muscle metabolism in patients with β-enolase deficiency (GSDXIII) during exercise, and the effect of glucose infusion. Methods: Three patients with GSDXIII and 10 healthy controls performed a nonischemic hand
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c9da6c70835e6cbed15407be56634b6
http://hdl.handle.net/11570/3212054
http://hdl.handle.net/11570/3212054
Autor:
David Hilton-Jones, Damian Kozyra, Pedro Machado, Michael G. Hanna, Jane Freebody, L. Germain, Gina Sangha, Matt Parton, I Skorupinska, Bohao Yao, James Miller, Daniel Lunn
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry.
ObjectiveTo describe decline in muscle strength and physical function in patients with sporadic inclusion body myositis (IBM).MethodsManual muscle testing (MMT), quantitative muscle testing (QMT) and disability scoring using the IBM Functional Rating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f3ed2364c2dbff5ffb3ea3a6f80633f
https://pubmed.ncbi.nlm.nih.gov/33849999
https://pubmed.ncbi.nlm.nih.gov/33849999
Autor:
David Hilton-Jones, Jacqueline Palace
This chapter looks at how two fundamentally different pathological processes are associated with disease at the neuromuscular junction: acquired disorders in which autoantibodies are directed against nerve or muscle receptor or ion channels; rare inh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80b5d0391600a0620ef46114a0d0c2b1
https://doi.org/10.1093/med/9780198746690.003.0607
https://doi.org/10.1093/med/9780198746690.003.0607