Coen A C Ottenheijm
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Explore the profile of Coen A C Ottenheijm including associated specialties, affiliations and a list of published articles.
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99
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2320
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Recent Articles
1.
Heunks L, Donker D, Oppersma E, Ottenheijm C, Doorduin J
Am J Respir Crit Care Med
. 2024 Dec;
211(3):316-318.
PMID: 39701028
No abstract available.
2.
van Kleef E, Bouman K, Molenaar J, Kusters B, Groothuis J, Olive M, et al.
Neurol Genet
. 2024 Dec;
10(6):e200214.
PMID: 39651462
Background And Objectives: Nemaline myopathy type 6 (NEM6) is the most prevalent type of nemaline myopathy in the Netherlands. Because a detailed clinical characterization is not available yet, we here...
3.
van Kleef E, Bouman K, Molenaar J, de Winter J, Duijkers F, Eftimov F, et al.
J Neuromuscul Dis
. 2024 Sep;
11(6):1300-1307.
PMID: 39240645
Background: Nemaline myopathy type 6 (NEM6) or KBTBD13-related congenital myopathy is the most prevalent type of nemaline myopathy in the Netherlands and is characterised by mild childhood-onset axial, proximal and...
4.
van Kleef E, van de Camp S, Groothuis J, Erasmus C, Gaytant M, Vosse B, et al.
Neuromuscul Disord
. 2024 Aug;
43:29-38.
PMID: 39180840
Nemaline myopathy (NM) is a congenital myopathy with generalised muscle weakness, most pronounced in neck flexor, bulbar and respiratory muscles. The aim of this cross-sectional study was to assess the...
5.
Van Den Berg M, Shi Z, Claassen W, Hooijman P, Lewis C, Andersen J, et al.
Sci Transl Med
. 2024 Jul;
16(758):eadg3894.
PMID: 39083588
Patients receiving mechanical ventilation in the intensive care unit (ICU) frequently develop contractile weakness of the diaphragm. Consequently, they may experience difficulty weaning from mechanical ventilation, which increases mortality and...
6.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean C, Zaki M, et al.
Sci Transl Med
. 2024 Apr;
16(741):eadg2841.
PMID: 38569017
Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast () and TnI-slow (), are predominantly expressed in fast- and slow-twitch myofibers, respectively. variants are a rare...
7.
Fabian L, Karimi E, Farman G, Gohlke J, Ottenheijm C, Granzier H, et al.
Hum Mol Genet
. 2024 Mar;
33(12):1036-1054.
PMID: 38493359
Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterized by muscle weakness and hypotonia, slow gross motor development, and decreased respiratory function. Mutations in at least twelve genes, all...
8.
Galli R, Borsboom T, Gineste C, Brocca L, Rossi M, Hwee D, et al.
J Gen Physiol
. 2024 Feb;
156(4).
PMID: 38376469
Nemaline myopathies are the most common form of congenital myopathies. Variants in ACTA1 (NEM3) comprise 15-25% of all nemaline myopathy cases. Patients harboring variants in ACTA1 present with a heterogeneous...
9.
van Kleef E, Langer D, van Engelen B, Ottenheijm C, Voermans N, Doorduin J
J Neuromuscul Dis
. 2023 Jul;
10(5):825-834.
PMID: 37458044
Background: Respiratory muscle weakness is a common feature in nemaline myopathy. Inspiratory muscle training (IMT) is an intervention that aims to improve inspiratory muscle strength. Objective: The aim of this...
10.
Landim-Vieira M, Ma W, Song T, Rastegarpouyani H, Gong H, Coscarella I, et al.
Proc Natl Acad Sci U S A
. 2023 May;
120(23):e2221244120.
PMID: 37252999
Missense variant Ile79Asn in human cardiac troponin T (cTnT-I79N) has been associated with hypertrophic cardiomyopathy and sudden cardiac arrest in juveniles. cTnT-I79N is located in the cTnT N-terminal (TnT1) loop...