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Page 1
Diaphragm Activity during Expiration in Ventilated Critically Ill Patients.
de Vries HJ, Jonkman AH, Holleboom MC, de Grooth HJ, Shi Z, Ottenheijm CA, de Man AM, Tuinman PR, Heunks L. de Vries HJ, et al. Am J Respir Crit Care Med. 2024 Apr 1;209(7):881-883. doi: 10.1164/rccm.202310-1845LE. Am J Respir Crit Care Med. 2024. PMID: 38190708 No abstract available.
A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands.
van Kleef ESB, van de Camp SAJH, Groothuis JT, Erasmus CE, Gaytant MA, Vosse BAH, de Weerd W, Verschuuren-Bemelmans CC, Medici-Van den Herik EG, Wallgren-Pettersson C, Küsters B, Schouten M, van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC. van Kleef ESB, et al. Among authors: ottenheijm cac. Neuromuscul Disord. 2024 Oct;43:29-38. doi: 10.1016/j.nmd.2024.08.001. Epub 2024 Aug 3. Neuromuscul Disord. 2024. PMID: 39180840 Free article.
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6.
van Kleef ESB, Bouman K, Molenaar JPF, de Winter JM, Duijkers FAM, Eftimov F, Verschuuren-Bemelmans CC, van der Laan T, Küsters B, Malfatti E, Kamsteeg EJ, van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC. van Kleef ESB, et al. Among authors: ottenheijm cac. J Neuromuscul Dis. 2024 Sep 4. doi: 10.3233/JND-230196. Online ahead of print. J Neuromuscul Dis. 2024. PMID: 39240645
Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 Patients.
van Kleef ESB, Bouman K, Molenaar JPF, Küsters B, Groothuis JT, Olivé M, Malfatti E, Kamsteeg EJ, Van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC. van Kleef ESB, et al. Among authors: ottenheijm cac. Neurol Genet. 2024 Dec 5;10(6):e200214. doi: 10.1212/NXG.0000000000200214. eCollection 2024 Dec. Neurol Genet. 2024. PMID: 39651462 Free PMC article.
Geranylgeranylacetone reduces cardiomyocyte stiffness and attenuates diastolic dysfunction in a rat model of cardiometabolic syndrome.
Waddingham MT, Sequeira V, Kuster DWD, Dal Canto E, Handoko ML, de Man FS, da Silva Gonçalves Bós D, Ottenheijm CA, Shen S, van der Pijl RJ, van der Velden J, Paulus WJ, Eringa EC. Waddingham MT, et al. Physiol Rep. 2023 Nov;11(22):e15788. doi: 10.14814/phy2.15788. Physiol Rep. 2023. PMID: 37985159 Free PMC article. Clinical Trial.
Super-relaxed myosins contribute to respiratory muscle hibernation in mechanically ventilated patients.
van den Berg M, Shi Z, Claassen WJ, Hooijman P, Lewis CTA, Andersen JL, van der Pijl RJ, Bogaards SJP, Conijn S, Peters EL, Begthel LPL, Uijterwijk B, Lindqvist J, Langlais PR, Girbes ARJ, Stapel S, Granzier H, Campbell KS, Ma W, Irving T, Hwee DT, Hartman JJ, Malik FI, Paul M, Beishuizen A, Ochala J, Heunks L, Ottenheijm CAC. van den Berg M, et al. Among authors: ottenheijm cac. Sci Transl Med. 2024 Jul 31;16(758):eadg3894. doi: 10.1126/scitranslmed.adg3894. Epub 2024 Jul 31. Sci Transl Med. 2024. PMID: 39083588
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. Donkervoort S, et al. Among authors: ottenheijm cac. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. Sci Transl Med. 2024. PMID: 38569017 Free article.
106 results