E J Kamsteeg
Overview
Explore the profile of E J Kamsteeg including associated specialties, affiliations and a list of published articles.
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35
Citations
584
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Recent Articles
1.
de Laat E, Houwen-van Opstal S, Bouman K, van Doorn J, Cameron D, van Alfen N, et al.
BMC Neurol
. 2024 Dec;
24(1):477.
PMID: 39681838
No abstract available.
2.
de Laat E, Houwen-van Opstal S, Bouman K, van Doorn J, Cameron D, van Alfen N, et al.
BMC Neurol
. 2024 Oct;
24(1):409.
PMID: 39443859
Background: SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular dystrophy (LAMA2-MD) has a...
3.
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.
4.
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...
5.
van den Bersselaar L, Greven T, Bulger T, Voermans N, van Petegem F, Schiemann A, et al.
Br J Anaesth
. 2021 Jun;
127(2):e63-e65.
PMID: 34127251
No abstract available.
6.
Kruijt N, van den Bersselaar L, Wijma J, Verbeeck W, Coenen M, Neville J, et al.
Neuromuscul Disord
. 2020 Nov;
30(12):949-958.
PMID: 33250373
Neuroleptic malignant syndrome and serotonin syndrome are two syndromes whose molecular bases remain poorly understood. The phenotypes of both syndromes overlap with other syndromes that have a clear genetic background,...
7.
Kruijt N, van den Bersselaar L, Kamsteeg E, Verbeeck W, Snoeck M, Everaerd D, et al.
Eur J Neurol
. 2020 Sep;
28(2):647-659.
PMID: 32978841
Background And Purpose: Rhabdomyolysis is a medical emergency characterized by acute skeletal muscle breakdown with a sudden rise and subsequent fall of serum creatine kinase (CK) levels. Rhabdomyolysis events are...
8.
Van Beusichem A, Nicolai J, Verhoeven J, Speth L, Coenen M, Willemsen M, et al.
Neuropediatrics
. 2019 Dec;
51(2):146-153.
PMID: 31805580
Several variants in the gene have been reported to cause a complicated form of hereditary spastic paraplegia. Additional symptoms include cognitive impairment and varying degrees of peripheral neuropathy, epilepsy, decreased...
9.
van Ruitenbeek E, Custers J, Verhaak C, Snoeck M, Erasmus C, Kamsteeg E, et al.
Neuromuscul Disord
. 2018 Dec;
29(1):30-38.
PMID: 30578099
Mutations in RYR1 are a common genetic cause of non-dystrophic neuromuscular disorders. To obtain baseline data concerning the prevalence of fatigue, the psychological disease burden and quality of life associated...
10.
Stunnenberg B, Raaphorst J, Deenen J, Links T, Wilde A, Verbove D, et al.
Neuromuscul Disord
. 2018 Apr;
28(5):402-407.
PMID: 29606556
Few reliable data exist on the prevalence of skeletal muscle channelopathies. We determined the minimum point prevalence of genetically-defined skeletal muscle channelopathies in the Netherlands and report their mutation spectrum....