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Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Roth F, Dhiab J, Boulinguiez A, Mouigni HR, Lassche S, Negroni E, Muraine L, Marhic A, Oliver A, Lainé J, Rouche A, O'Ferrall EK, van Engelen B, Ottenheijm C, Greif H, Blumen S, Lacau St Guily J, Perie S, Butler-Browne G, Mouly V, Trollet C. Roth F, et al. Among authors: ottenheijm c. Acta Neuropathol. 2022 Dec;144(6):1157-1170. doi: 10.1007/s00401-022-02503-7. Epub 2022 Oct 5. Acta Neuropathol. 2022. PMID: 36197469 Free PMC article.
Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
Landim-Vieira M, Ma W, Song T, Rastegarpouyani H, Gong H, Coscarella IL, Bogaards SJP, Conijn SP, Ottenheijm CAC, Hwang HS, Papadaki M, Knollmann BC, Sadayappan S, Irving TC, Galkin VE, Chase PB, Pinto JR. Landim-Vieira M, et al. Among authors: ottenheijm cac. Proc Natl Acad Sci U S A. 2023 Jun 6;120(23):e2221244120. doi: 10.1073/pnas.2221244120. Epub 2023 May 30. Proc Natl Acad Sci U S A. 2023. PMID: 37252999 Free PMC article.
Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome.
Ottenheijm CA, Voermans NC, Hudson BD, Irving T, Stienen GJ, van Engelen BG, Granzier H. Ottenheijm CA, et al. J Appl Physiol (1985). 2012 Apr;112(7):1157-65. doi: 10.1152/japplphysiol.01166.2011. Epub 2012 Jan 5. J Appl Physiol (1985). 2012. PMID: 22223454 Free PMC article.
Muscle fiber dysfunction contributes to weakness in inclusion body myositis.
Lassche S, Rietveld A, Heerschap A, van Hees HW, Hopman MT, Voermans NC, Saris CG, van Engelen BG, Ottenheijm CA. Lassche S, et al. Among authors: ottenheijm ca. Neuromuscul Disord. 2019 Jun;29(6):468-476. doi: 10.1016/j.nmd.2019.03.001. Epub 2019 Mar 7. Neuromuscul Disord. 2019. PMID: 31101463 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. Among authors: ottenheijm ca. J Clin Invest. 2020 Feb 3;130(2):754-767. doi: 10.1172/JCI124000. J Clin Invest. 2020. PMID: 31671076 Free PMC article.
Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy.
Lassche S, Voermans NC, van der Pijl R, van den Berg M, Heerschap A, van Hees H, Kusters B, van der Maarel SM, Ottenheijm CAC, van Engelen BGM. Lassche S, et al. Among authors: ottenheijm cac. Neurology. 2020 Mar 17;94(11):e1157-e1170. doi: 10.1212/WNL.0000000000008977. Epub 2020 Jan 21. Neurology. 2020. PMID: 31964688 Free PMC article.
138 results