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Page 1
Inspiratory Muscle Training in Nemaline Myopathy.
van Kleef ESB, Langer D, van Engelen BGM, Ottenheijm CAC, Voermans NC, Doorduin J. van Kleef ESB, et al. J Neuromuscul Dis. 2023;10(5):825-834. doi: 10.3233/JND-221665. J Neuromuscul Dis. 2023. PMID: 37458044 Free PMC article.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. J Clin Invest. 2020 Feb 3;130(2):754-767. doi: 10.1172/JCI124000. J Clin Invest. 2020. PMID: 31671076 Free PMC article.
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Bouman K, Küsters B, De Winter JM, Gillet C, Van Kleef ESB, Eshuis L, Brochier G, Madelaine A, Labasse C, Boulogne C, Van Engelen BGM, Ottenheijm CAC, Romero NB, Voermans NC, Malfatti E. Bouman K, et al. Among authors: van kleef esb. J Neuropathol Exp Neurol. 2021 Mar 22;80(4):366-376. doi: 10.1093/jnen/nlab012. J Neuropathol Exp Neurol. 2021. PMID: 33693846
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, van Tilburg WCM, Buckens SCFM, Dittrich ATM, Draaisma JMT, Janssen MCH, Kamsteeg EJ, van Kleef ESB, Koene S, Smeitink JAM, Küsters B, van Tienen FHJ, Smeets HJM, van Engelen BGM, Erasmus CE, Voermans NC. Bouman K, et al. Among authors: van kleef esb. BMC Neurol. 2021 Aug 12;21(1):313. doi: 10.1186/s12883-021-02336-z. BMC Neurol. 2021. PMID: 34384384 Free PMC article.
Respiratory muscle function in patients with nemaline myopathy.
van Kleef ESB, van Doorn JLM, Gaytant MA, de Weerd W, Vosse BAH, Wallgren-Pettersson C, van Engelen BGM, Ottenheijm CAC, Voermans NC, Doorduin J. van Kleef ESB, et al. Neuromuscul Disord. 2022 Aug;32(8):654-663. doi: 10.1016/j.nmd.2022.06.009. Epub 2022 Jun 22. Neuromuscul Disord. 2022. PMID: 35803773 Free article.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. J Clin Invest. 2024 Feb 1;134(3):e179111. doi: 10.1172/JCI179111. J Clin Invest. 2024. PMID: 38299595 Free PMC article. 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. 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.
12 results