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N C Voermans

Explore the profile of N C Voermans including associated specialties, affiliations and a list of published articles. Areas
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Articles 75
Citations 655
Followers 0
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Recent Articles
1.
Verhees E, Cobben N, Biggelaar R, Voermans N
Neuromuscul Disord . 2024 Nov; 46:105241. PMID: 39580946
No abstract available.
2.
Thewissen R, Post M, Maas D, Veizaj R, Wagenaar I, Alsady M, et al.
JIMD Rep . 2024 May; 65(3):171-181. PMID: 38736632
Three forms of muscular dystrophy-dystroglycanopathies are linked to the ribitol pathway. These include mutations in the isoprenoid synthase domain-containing protein (), fukutin-related protein (), and fukutin () genes. The aforementioned...
3.
Van Tienen J, van Geenen C, Voet N, Servais L, Voermans N
Neuromuscul Disord . 2024 Feb; 36:23-27. PMID: 38330679
No abstract available.
4.
Voermans N, Yang C, Schouten M, Girard T, Stowell K, Riazi S, et al.
Neuromuscul Disord . 2023 Nov; 35:40-41. PMID: 38007345
No abstract available.
5.
Vincenten S, Teeselink S, Voermans N, van Engelen B, Mul K, van Alfen N
Neuromuscul Disord . 2023 Nov; 33(12):936-944. PMID: 37968164
Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscle disease, that causes weakness and wasting of skeletal muscles. In this cross-sectional cohort-study on FSHD patients, we assessed muscle ultrasound findings and...
6.
Kruijt N, van den Bersselaar L, Hopman M, Snoeck M, van Rijswick M, Wiggers T, et al.
Sports Med Open . 2023 May; 9(1):33. PMID: 37204519
Introduction: Exertional heat stroke (EHS) is a medical emergency, occurring when the body generates more heat than it can dissipate, and frequently associated with exertional rhabdomyolysis (ERM). In the present...
7.
Padberg G, van Engelen B, Voermans N
J Neuromuscul Dis . 2023 Mar; 10(3):411-425. PMID: 36872787
 Facioscapulohumeral muscular dystrophy (FSHD) is an exclusively human neuromuscular disease. In the last decades the cause of FSHD was identified: the loss of epigenetic repression of the D4Z4 repeat on...
8.
Kramer J, Boon H, Leijten Q, Ter Laak H, Eshuis L, Kusters B, et al.
J Neuromuscul Dis . 2023 Jan; 10(2):271-277. PMID: 36591657
We here present the case of a patient with a congenital myasthenic syndrome (CMS) due to pathogenic variants in the RAPSN gene. During childhood he experienced recurrent episodes of respiratory...
9.
Karnebeek I, Boon H, Huis A, Cup E, Eggink C, Schouten M, et al.
Neuromuscul Disord . 2022 Oct; 32(10):829-835. PMID: 36192279
Myotonic dystrophy type 1 is a neuromuscular disorder affecting multiple organ systems and is characterized by a variety of clinical presentations. Anticipation leads to an earlier and more severe phenotype...
10.
van den Bersselaar L, Gubbels M, Jungbluth H, Schouten M, van der Kooi A, Quinlivan R, et al.
J Neuromuscul Dis . 2022 Sep; 9(6):765-775. PMID: 36120788
Background: Patients with neuromuscular disorders are at increased risk of suffering perioperative complications. Current knowledge concerning this topic is based on small retrospective studies and expert opinion. Therefore, an individualized...