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
1.
Marlet I, Andersen R, Axelsen K, Andersen L, Vissing J, Witting N
J Neurol
. 2024 Dec;
272(1):29.
PMID: 39665854
Background: Early detection and diagnosis of myasthenia gravis (MG) is important to improve the chance of remission and overall prognosis. This study aims to investigate the factors affecting the diagnostic...
2.
Reason S, Voermans N, Lucia A, Vissing J, Quinlivan R, Bhai S, et al.
Neuromuscul Disord
. 2023 Jun;
33(7):575-579.
PMID: 37354872
McArdle disease (glycogen storage disease type V; GSDV) is a rare genetic disease caused by the inability to break down glycogen in skeletal muscle due to a deficiency in myophosphorylase....
3.
Villarreal-Salazar M, Santalla A, Real-Martinez A, Nogales-Gadea G, Valenzuela P, Fiuza-Luces C, et al.
Mol Metab
. 2022 Dec;
66:101648.
PMID: 36455789
Background: McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown. A hallmark of this condition is muscle oxidation impairment (e.g., low peak oxygen...
4.
Witting N, Daugaard D, Prytz S, Biernat H, Diederichsen L, Vissing J
J Neurol
. 2022 Mar;
269(8):4154-4160.
PMID: 35244767
Objective: Dysphagia can be troublesome in sporadic inclusion body myositis (sIBM) and oculopharyngeal muscular dystrophy (OPMD), but no established treatment exists. Cricopharyngeal muscle botulinum toxin injection has at case level...
5.
Voermans N, Vriens-Munoz Bravo M, Padberg G, Laforet P, van Alfen N, Attarian S, et al.
Neuromuscul Disord
. 2021 Aug;
31(9):907-918.
PMID: 34404575
No abstract available.
6.
Krett B, Straub V, Vissing J
Eur J Neurol
. 2020 Oct;
28(2):729-731.
PMID: 33047465
α-methylacyl-CoA racemase (AMACR) deficiency is a rare disorder, affecting peroxisomal metabolism of pristanic acid, with ten published adult cases. We describe an AMACR deficiency case with a clinical presentation dominated...
7.
Giacomucci G, Monforte M, Diaz-Manera J, Mul K, Fernandez Torron R, Maggi L, et al.
Eur J Neurol
. 2020 Jul;
27(12):2604-2615.
PMID: 32697863
Background And Purpose: The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations between imaging and clinical/molecular data....
8.
Andersen A, Orngreen M, Raaschou-Pedersen D, Borch J, Lokken N, Krag T, et al.
Neuromuscul Disord
. 2020 Apr;
30(4):340-345.
PMID: 32303402
This case report investigated exercise metabolism and the effect of oral sucrose and intravenous glucose supplementation in a 30-year-old, mildly affected man with muscle phosphorylase b kinase (PHK) deficiency caused...
9.
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao K, Hu Y, et al.
Acta Neuropathol
. 2019 Aug;
138(6):1013-1031.
PMID: 31463572
MSTO1 encodes a cytosolic mitochondrial fusion protein, misato homolog 1 or MSTO1. While the full genotype-phenotype spectrum remains to be explored, pathogenic variants in MSTO1 have recently been reported in...
10.
Witting N, Laforet P, Voermans N, Roux-Buisson N, Bompaire F, Rendu J, et al.
Acta Neurol Scand
. 2018 Apr;
137(5):452-461.
PMID: 29635721
Objectives: Rhabdomyolysis and myalgia are common conditions, and mutation in the ryanodine receptor 1 gene (RYR1) is suggested to be a common cause. Due to the large size of RYR1,...