J Vissing
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Explore the profile of J Vissing including associated specialties, affiliations and a list of published articles.
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82
Citations
915
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Recent Articles
11.
Langdahl J, Larsen M, Frost M, Andersen P, Yderstraede K, Vissing J, et al.
Clin Genet
. 2017 Dec;
93(4):925-928.
PMID: 29266179
Carriers of the mitochondrial mutation m.3243A>G presents highly variable phenotypes including mitochondrial encephalomyopathy, lactoacidosis and stroke-like episodes (MELAS). We conducted a follow-up study to evaluate changes in leucocyte heteroplasmy and...
12.
Hansen J, Pedersen E, Gaist D, Bach F, Vilholm O, Sandal B, et al.
Acta Neurol Scand
. 2017 Aug;
137(1):85-90.
PMID: 28832912
Objective: Late-onset Pompe disease (LOPD) is a rare autosomal recessively inherited metabolic myopathy caused by reduced activity of the lysosomal enzyme alpha-glucosidase. In a previous screening study at two large...
13.
van der Ploeg A, Kruijshaar M, Toscano A, Laforet P, Angelini C, Lachmann R, et al.
Eur J Neurol
. 2017 May;
24(6):768-e31.
PMID: 28477382
Background And Purpose: Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Uniform criteria for starting and stopping ERT in...
14.
Voermans N, Preisler N, Madsen K, Janssen M, Kusters B, Abu Bakar N, et al.
Neuromuscul Disord
. 2017 Feb;
27(4):370-376.
PMID: 28190645
Mutations in PGM1 (phosphoglucomutase 1) cause Glycogen Storage Disease type XIV, which is also a congenital disorder of protein N-glycosylation. It presents throughout life as myopathy with additional systemic symptoms....
15.
Werlauff U, Petri H, Witting N, Vissing J
J Neuromuscul Dis
. 2016 Nov;
2(2):167-174.
PMID: 27858727
Background: Centronuclear myopathy (CNM) is one of four main subtypes of congenital myopathy. X-linked myotubular myopathy (XLMTM) is considered one of the most severe forms, but survivors past infancy have...
16.
Oestergaard S, Stojkovic T, Dahlqvist J, Bouchet-Seraphin C, Nectoux J, Leturcq F, et al.
Neurol Genet
. 2016 Oct;
2(6):e112.
PMID: 27766311
Objective: In this study, muscle involvement assessed by MRI and levels of GMPPB and glycosylation of α-dystroglycan expression in muscle were examined in patients with limb-girdle muscular dystrophy (LGMD) type...
17.
Vissing J
Rev Neurol (Paris)
. 2016 Sep;
172(10):559-565.
PMID: 27663059
Metabolic myopathies encompass muscle glycogenoses (GSD) and disorders of muscle fat oxidation (FAOD). FAODs and GSDs can be divided into two main clinical phenotypes; those with static symptoms related to...
18.
Hedermann G, Marquart H, Vissing J
Scand J Rheumatol
. 2016 Apr;
45(5):429-31.
PMID: 27050436
No abstract available.
19.
Guo S, Esserlind A, Andersson Z, Frederiksen A, Olesen J, Vissing J, et al.
Eur J Neurol
. 2015 Oct;
23(1):175-81.
PMID: 26435168
Background And Purpose: Over the last three decades mitochondrial dysfunction has been postulated to be a potential mechanism in migraine pathogenesis. The lifetime prevalence of migraine in persons carrying the...
20.
Lund M, Melbye M, Diaz L, Duno M, Wohlfahrt J, Vissing J
Br J Cancer
. 2015 Mar;
112(6):1134-40.
PMID: 25742477
Background: Mitochondrial mutations are commonly reported in tumours, but it is unclear whether impaired mitochondrial function per se is a cause or consequence of cancer. To elucidate this, we examined...