David Hilton-Jones
Overview
Explore the profile of David Hilton-Jones including associated specialties, affiliations and a list of published articles.
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Articles
75
Citations
1997
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0
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Recent Articles
1.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, et al.
Brain
. 2021 Dec;
145(11):3985-3998.
PMID: 34957489
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...
2.
Buch A, Musumeci O, Wigley R, Stemmerik M, Eisum A, Madsen K, et al.
JIMD Rep
. 2021 Sep;
61(1):60-66.
PMID: 34485019
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...
3.
Sangha G, Yao B, Lunn D, Skorupinska I, Germain L, Kozyra D, et al.
J Neurol Neurosurg Psychiatry
. 2021 Apr;
PMID: 33849999
Objective: To describe decline in muscle strength and physical function in patients with sporadic inclusion body myositis (IBM). Methods: Manual muscle testing (MMT), quantitative muscle testing (QMT) and disability scoring...
4.
Vecchio D, Ramdas S, Munot P, Pitt M, Beeson D, Knight R, et al.
Neuromuscul Disord
. 2020 Feb;
30(2):120-127.
PMID: 32001147
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...
5.
Kyriakides T, Angelini C, Vilchez J, Hilton-Jones D
Muscle Nerve
. 2019 Dec;
61(2):E14-E15.
PMID: 31820461
No abstract available.
6.
Wigley R, Scalco R, Gardiner A, Godfrey R, Booth S, Kirk R, et al.
JIMD Rep
. 2019 Nov;
50(1):40-43.
PMID: 31741825
Glycogen storage disease type XIII (GSDXIII) is a very rare inherited metabolic myopathy characterized by autosomal-recessive mutations in the gene resulting in muscle β-enolase deficiency, an enzymatic defect of the...
7.
Olivier P, De Paepe B, Aronica E, Berfelo F, Colman R, Amato A, et al.
Neurology
. 2019 Jul;
93(9):e889-e894.
PMID: 31358616
Objective: To determine interrater variability in diagnosing individual muscle biopsy abnormalities and diagnosis. Methods: We developed a scoring tool to analyze consensus in muscle biopsy reading of an ad hoc...
8.
Hilton-Jones D
Pract Neurol
. 2018 Mar;
18(2):97-105.
PMID: 29496886
Statins are the Marmite ('You either love it or hate it!') of the drug world, both in terms of therapeutic benefit and risk of side effects. Proponents think that they...
9.
Lee Y, Jonson P, Sarparanta J, Palmio J, Sarkar M, Vihola A, et al.
J Clin Invest
. 2018 Feb;
128(3):1164-1177.
PMID: 29457785
Multisystem proteinopathy (MSP) involves disturbances of stress granule (SG) dynamics and autophagic protein degradation that underlie the pathogenesis of a spectrum of degenerative diseases that affect muscle, brain, and bone....
10.
Klimiec E, Quirke M, Leite M, Hilton-Jones D
Muscle Nerve
. 2018 Feb;
PMID: 29424940
Introduction: The ability to distinguish between normal thymus, thymic hyperplasia, and thymoma should aid clinical management and decision making in patients with myasthenia gravis (MG). We sought to determine the...