Coen Ottenheijm

PROF.DR., (Principal Investigator)

20052020

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Research Output

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Activation of the ubiquitin-proteasome pathway in the diaphragm in chronic obstructive pulmonary disease

Ottenheijm, C. A. C., Heunks, L. M. A., Li, Y. P., Jin, B., Minnaard, R., Van Hees, H. W. H. & Dekhuijzen, P. N. R., 1 Nov 2006, In : American Journal of Respiratory and Critical Care Medicine. 174, 9, p. 997-1002 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Alterations at the Cross-Bridge Level Are Associated with a Paradoxical Gain of Muscle Function In Vivo in a Mouse Model of Nemaline Myopathy

Gineste, C., Ottenheijm, C. A. C., Le Fur, Y., Banzet, S., Pecchi, E., Vilmen, C., Cozzone, P. J., Koulmann, N., Hardeman, E. C., Bendahan, D. & Gondin, J., 2014, In : PLoS ONE. 9, 9, e109066.

Research output: Contribution to journalArticleAcademicpeer-review

Altered contractility of skeletal muscle in mice deficient in titin's M-Band region

Ottenheijm, C. A. C., Hidalgo, C., Rost, K., Gotthardt, M. & Granzier, H., 2009, In : Journal of Molecular Biology. 393, 1, p. 10-26

Research output: Contribution to journalArticleAcademicpeer-review

Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2)

Ottenheijm, C. A. C., Hooijman, P., DeChene, E. T., Stienen, G. J. M., Beggs, A. H. & Granzier, H., 2010, In : Journal of Structural Biology. 170, 2, p. 334-343

Research output: Contribution to journalArticleAcademicpeer-review

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy

Ottenheijm, C. A. C., Lawlor, M. W., Stienen, G. J. M., Granzier, H. & Beggs, A. H., 2011, In : Human Molecular Genetics. 20, 10, p. 2015-2025

Research output: Contribution to journalArticleAcademicpeer-review

Contractile Dysfunction of Left Ventricular Cardiomyocytes in Patients With Pulmonary Arterial Hypertension

Manders, E., Bogaard, H. J., Handoko, M. L., van de Veerdonk, M. C., Keogh, A., Westerhof, N., Stienen, G. J. M., dos Remedios, C. G., Humbert, M., Dorfmuller, P., Fadel, E., Guignabert, C., van der Velden, J., Vonk-Noordegraaf, A., de Man, F. S. & Ottenheijm, C. A. C., 2014, In : Journal of the American College of Cardiology. 64, 1, p. 28-37

Research output: Contribution to journalArticleAcademicpeer-review

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

Ottenheijm, C. A. C., Buck, D., de Winter, J. M., Ferrara, C., Piroddi, N., Tesi, C., Jasper, J. R., Malik, F. I., Meng, H., Stienen, G. J. M., Beggs, A. H., Labeit, S., Poggesi, C., Lawlor, M. W. & Granzier, H., 2013, In : Brain. 136, p. 1718-1731

Research output: Contribution to journalArticleAcademicpeer-review

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

Lassche, S., Ottenheijm, C. A. C., Voermans, N. C., Westeneng, H. J., Janssen, B. H., van der Maarel, S. M., Hopman, M. T., Padberg, G. W., Stienen, G. J. M. & van Engelen, B. G. M., 2013, In : BMC Neurology. 13, 144.

Research output: Contribution to journalArticleAcademicpeer-review

Diaphragm Atrophy and Weakness in the Absence of Mitochondrial Dysfunction in the Critically Ill

van den Berg, M., Hooijman, P. E., Beishuizen, A., de Waard, M. C., Paul, M. A., Hartemink, K. J., van Hees, H. W. H., Lawlor, M. W., Brocca, L., Bottinelli, R., Pellegrino, M. A., Stienen, G. J. M., Heunks, L. M. A., Wüst, R. C. I. & Ottenheijm, C. A., 15 Dec 2017, In : American Journal of Respiratory and Critical Care Medicine. 196, 12, p. 1544-1558 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diaphragm contractile weakness due to reduced mechanical loading: Role of titin

van der Pijl, R. J., Granzier, H. L. & Ottenheijm, C. A. C., 1 Aug 2019, In : American Journal of Physiology: Cell Physiology. 317, 2, p. C167-C176

Research output: Contribution to journalArticleAcademicpeer-review

Diaphragm dysfunction in chronic obstructive pulmonary disease: A role for heparan sulphate?

Ottenheijm, C. A. C., Jenniskens, G. J., Geraedts, M. C. P., Hafmans, T., Heunks, L. M. A., van Kuppevelt, T. H. & Dekhuijzen, P. N. R., 1 Jul 2007, In : European Respiratory Journal. 30, 1, p. 80-89 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diaphragm dysfunction in chronic obstructive pulmonary disease

Ottenheijm, C. A. C., Heunks, L. M. A., Sieck, G. C., Zhan, W. Z., Jansen, S. M., Degens, H., De Boo, T. & Dekhuijzen, P. N. R., 15 Jul 2005, In : American Journal of Respiratory and Critical Care Medicine. 172, 2, p. 200-205 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diaphragm Fiber Strength Is Reduced in Critically III Patients and Restored by a Troponin Activator

Hooijman, P. E., Beishuizen, A., de Waard, M. C., de Man, F. S., Vermeijden, J. W., Steenvoorde, P., Bouwman, R. A., Lommen, W., van Hees, H. W. H., Heunks, L. M. A., Dickhoff, C., van der Peet, D. L., Girbes, A. R. J., Jasper, J. R., Malik, F. I., Stienen, G. J. M., Hartemink, K. J., Paul, M. A. & Ottenheijm, C. A. C., 2014, In : American Journal of Respiratory and Critical Care Medicine. 189, 7, p. 863-865

Research output: Contribution to journalArticleAcademicpeer-review

Diaphragm muscle fiber function and structure in humans with hemidiaphragm paralysis

Welvaart, W. N., Paul, M. A., van Hees, H. W. H., Stienen, G. J. M., Niessen, H. W. M., de Man, F. S., Sieck, G. C., Vonk Noordegraaf, A. & Ottenheijm, C. A. C., 2011, In : American Journal of Physiology. Lung Cellular and Molecular Physiology. 301, 2, p. L228-L235

Research output: Contribution to journalArticleAcademicpeer-review

Diaphragm muscle fiber weakness and ubiquitin-proteasome activation in critically ill patients

Hooijman, P. E., Beishuizen, A., Witt, C. C., de Waard, M. C., Girbes, A. R. J., Spoelstra-de Man, A. M. E., Niessen, H. W., Manders, E., van Hees, H. W. H., van den Brom, C. E., Silderhuis, V., Lawlor, M. W., Labeit, S., Stienen, G. J. M., Hartemink, K. J., Paul, M. A., Heunks, L. M. A. & Ottenheijm, C. A. C., 15 May 2015, In : American Journal of Respiratory and Critical Care Medicine. 191, 10, p. 1126-1138 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diaphragm Muscle Fiber Weakness in Pulmonary Hypertension

de Man, F. S., van Hees, H. W. H., Handoko, M. L., Niessen, H. W. M., Schalij, I., Humbert, M., Dorfmuller, P., Mercier, O., Bogaard, H. J., Postmus, P. E., Westerhof, N., Stienen, G. J. M., van der Laarse, W. J., Vonk Noordegraaf, A. & Ottenheijm, C. A. C., 2011, In : American Journal of Respiratory and Critical Care Medicine. 183, 10, p. 1411-1418

Research output: Contribution to journalArticleAcademicpeer-review

Diaphragm single-fiber weakness and loss of myosin in congestive heart failure rats

Van Hees, H. W. H., Van Der Heijden, H. F. M., Ottenheijm, C. A. C., Heunks, L. M. A., Pigmans, C. J. C., Verheugt, F. W. A., Brouwer, R. M. H. J. & Dekhuijzen, P. N. R., 1 Jul 2007, In : American Journal of Physiology - Heart and Circulatory Physiology. 293, 1, p. H819-H828 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diaphragm weakness in pulmonary arterial hypertension: role of sarcomeric dysfunction

Manders, E., de Man, F. S., Handoko, M. L., Westerhof, N., van Hees, H. W. H., Stienen, G. J. M., Vonk Noordegraaf, A. & Ottenheijm, C. A. C., 2012, In : American Journal of Physiology. Lung Cellular and Molecular Physiology. 303, 12, p. L1070-L1078

Research output: Contribution to journalArticleAcademicpeer-review

Differential splicing of the large sarcomeric protein nebulin during skeletal muscle development

Buck, D., Hudson, B. D., Ottenheijm, C. A. C., Labeit, S. & Granzier, H., 2010, In : Journal of Structural Biology. 170, 2, p. 325-333

Research output: Contribution to journalArticleAcademicpeer-review

Downsizing the molecular spring of the giant protein titin reveals that skeletal muscle titin determines passive stiffness and drives longitudinal hypertrophy

Brynnel, A., Hernandez, Y., Kiss, B., Lindqvist, J., Adler, M., Kolb, J., van der Pijl, R., Gohlke, J., Strom, J., Smith, J., Ottenheijm, C. & Granzier, H. L., 19 Dec 2018, In : eLife. 7, e40532.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy

Ojima, K., Kawabata, Y., Nakao, H., Nakao, K., Doi, N., Kitamura, F., Ono, Y., Hata, S., Suzuki, H., Kawahara, H., Bogomolovas, J., Witt, C., Ottenheijm, C. A. C., Labeit, S., Granzier, H., Toyama-Sorimachi, N., Sorimachi, M., Suzuki, K., Maeda, T., Abe, K. & 2 others, Aiba, A. & Sorimachi, H., 2010, In : Journal of Clinical Investigation. 120, 8, p. 2672-2683 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
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Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)

Joureau, B., de Winter, J. M., Conijn, S., Bogaards, S. J. P., Kovacevic, I., Kalganov, A., Persson, M., Lindqvist, J., Stienen, G. J. M., Irving, T. C., Ma, W., Yuen, M., Clarke, N. F., Rassier, D. E., Malfatti, E., Romero, N. B., Beggs, A. H. & Ottenheijm, C. A. C., 1 Feb 2018, In : Annals of Neurology. 83, 2, p. 269-282 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene

de Winter, J. M., Joureau, B., Sequeira Oliveira, V., Clarke, N. F., van der Velden, J., Stienen, G. J. M., Granzier, H., Beggs, A. H. & Ottenheijm, C. A. C., 2015, In : Skeletal Muscle. 5, 12.

Research output: Contribution to journalArticleAcademicpeer-review

Effects of diaphragm plication on pulmonary function and cardiopulmonary exercise parameters

Welvaart, W. N., Jak, P. M. C., van de Veerdonk, M. C., Marcus, J. T., Ottenheijm, C. A. C., Paul, M. A. & Vonk-Noordegraaf, A., 2013, In : European Journal of Cardio-thoracic Surgery. 44, 4, p. 643-647

Research output: Contribution to journalArticleAcademicpeer-review

Effects of levosimendan on respiratory muscle function in patients weaning from mechanical ventilation

Roesthuis, L., van der Hoeven, H., Sinderby, C., Frenzel, T., Ottenheijm, C., Brochard, L., Doorduin, J. & Heunks, L., Oct 2019, In : Intensive Care Medicine. 45, 10, p. 1372-1381 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

End-diastolic force pre-activates cardiomyocytes and determines contractile force: role of titin and calcium

Najafi, A., van de Locht, M., Schuldt, M., Schönleitner, P., van Willigenburg, M., Bollen, I., Goebel, M., Ottenheijm, C. A. C., van der Velden, J., Helmes, M. & Kuster, D. W. D., 1 Sep 2019, In : Journal of Physiology. 597, 17, p. 4521-4531

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Experimentally Increasing Titin Compliance in a Novel Mouse Model Attenuates the Frank-Starling Mechanism But Has a Beneficial Effect on Diastole

Methawasin, M., Hutchinson, K. R., Lee, E. J., Smith, J. E., Saripalli, C., Hidalgo, C. G., Ottenheijm, C. A. C. & Granzier, H., 2014, In : Circulation. 129, 19, p. 1924-1936

Research output: Contribution to journalArticleAcademicpeer-review

Fast Skeletal Muscle Troponin Activation Increases Force of Mouse Fast Skeletal Muscle and Ameliorates Weakness Due to Nebulin-Deficiency

Lee, E. J., de Winter, J. M., Buck, D., Jasper, J. R., Malik, F. I., Labeit, S., Ottenheijm, C. A. C. & Granzier, H., 2013, In : PLoS ONE. 8, 2, e55861.

Research output: Contribution to journalArticleAcademicpeer-review

Gene expression profile in the diaphragm following contractile inactivity during thoracic surgery

Welvaart, W. N., Paul, M. A., Kuster, D. W. D., van Wieringen, W. N., Rustenburg, F., Stienen, G. J. M., Vonk Noordegraaf, A. & Ottenheijm, C. A. C., 2011, In : International Journal of Physiology, Pathophysiology and Pharmacology. 3, 3, p. 167-175

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
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Heart failure decreases passive tension generation of rat diaphragm fibers

van Hees, H. W. H., Ottenheijm, C. A. C., Granzier, H. L., Dekhuijzen, P. N. R. & Heunks, L. M. A., 2010, In : International Journal of Cardiology. 141, 3, p. 275-283

Research output: Contribution to journalArticleAcademicpeer-review

Hypoxia-induced skeletal muscle fiber dysfunction: Role for reactive nitrogen species

Ottenheijm, C. A. C., Heunks, L. M. A., Geraedts, M. C. P. & Dekhuijzen, P. N. R., 1 Jan 2006, In : American Journal of Physiology - Lung Cellular and Molecular Physiology. 290, 1, p. L127-L135 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype

Gineste, C., de Winter, J. M., Kohl, C., Witt, C. C., Giannesini, B., Brohm, K., Le Fur, Y., Gretz, N., Vilmen, C., Pecchi, E., Jubeau, M., Cozzone, P. J., Stienen, G. J. M., Granzier, H., Labeit, S., Ottenheijm, C. A. C., Bendahan, D. & Gondin, J., 2013, In : Neuromuscular Disorders. 23, 4, p. 357-369

Research output: Contribution to journalArticleAcademicpeer-review

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

Mokbel, N., Ilkovski, B., Kreissl, M., Memo, M., Jeffries, C. M., Marttila, M., Lehtokari, V. L., Lemola, E., Gronholm, M., Yang, N., Menard, D., Marcorelles, P., Echaniz-Laguna, A., Reimann, J., Vainzof, M., Monnier, N., Ravenscroft, G., McNamara, E., Nowak, K. J., Laing, N. G. & 6 others, Wallgren-Pettersson, C., Trewhella, J., Marston, S., Ottenheijm, C. A. C., North, K. N. & Clarke, N. F., 2013, In : Brain. 136, p. 494-507

Research output: Contribution to journalArticleAcademicpeer-review

KBTBD13 is an actin-binding protein that modulates muscle kinetics

de Winter, J. M., Molenaar, J. P., Yuen, M., van der Pijl, R., Shen, S., Conijn, S., van de Locht, M., Willigenburg, M., Bogaards, S. J. P., van Kleef, E. S., Lassche, S., Persson, M., Rassier, D. E., Sztal, T. E., Ruparelia, A. A., Oorschot, V., Ramm, G., Hall, T. E., Xiong, Z., Johnson, C. N. & 21 others, Li, F., Kiss, B., Lozano-Vidal, N., Boon, R. A., Marabita, M., Nogara, L., Blaauw, B., Rodenburg, R. J., Küsters, B., Doorduin, J., Beggs, A. H., Granzier, H., Campbell, K., Ma, W., Irving, T., Malfatti, E., Romero, N. B., Bryson-Richardson, R. J., van Engelen, B. G. M., Voermans, N. C. & Ottenheijm, C. A. C., 3 Feb 2020, In : Journal of Clinical Investigation. 130, 2, p. 754-767 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V. L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., Lek, M., Nolent, F., Pappas, C. T., Novak, S. M., D'Amico, A., Malfatti, E., Thomas, B. P., Gabriel, S. B. & 37 others, Gupta, N., Daly, M. J., Ilkovski, B., Houweling, P. J., Davidson, A. E., Swanson, L. C., Brownstein, C. A., Gupta, V. A., Medne, L., Shannon, P., Martin, N., Bick, D. P., Flisberg, A., Holmberg, E., van den Bergh, P., Lapunzina, P., Waddell, L. B., Sioboda, D. D., Bertini, E., Chitayat, D., Telfer, W. R., Laquerriere, A., Gregorio, C. C., Ottenheijm, C. A. C., Bonnemann, C. G., Pelin, K., Beggs, A. H., Hayashi, Y. K., Romero, N. B., Laing, N. G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V. M., MacArthur, D. G., North, K. N. & Clarke, N. F., 2014, In : Journal of Clinical Investigation. 124, 11, p. 4693-4708

Research output: Contribution to journalArticleAcademicpeer-review

Lifting the Nebula: Novel Insights into Skeletal Muscle Contractility

Ottenheijm, C. A. C. & Granzier, H., 2010, In : Physiology. 25, 5, p. 304-310

Research output: Contribution to journalArticleAcademicpeer-review

Mitochondrial Respiration and Passive Stretch of the Diaphragm During Unilateral Phrenic Nerve Stimulation

Hooijman, P. E. & Ottenheijm, C. A. C., 2014, In : Critical Care Medicine. 42, 9, p. E633-E634

Research output: Contribution to journalArticleAcademicpeer-review

Muscle fiber dysfunction contributes to weakness in inclusion body myositis

Lassche, S., Rietveld, A., Heerschap, A., van Hees, H. W., Hopman, M. T. E., Voermans, N. C., Saris, C. G. J., van Engelen, B. G. M. & Ottenheijm, C. A. C., 1 Jun 2019, In : Neuromuscular Disorders. 29, 6, p. 468-476 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

Malfatti, E., Lehtokari, V. L., Bohm, J., de Winter, J. M., Schaffer, U., Estournet, B., Quijano-Roy, S., Monges, S., Lubieniecki, F., Bellance, R., Viou, M. T., Madelaine, A., Wu, B., Taratuto, A. L., Eymard, B., Pelin, K., Fardeau, M., Ottenheijm, C. A. C., Wallgren-Pettersson, C., Laporte, J. & 1 others, Romero, N. B., 2014, In : Acta Neuropathologica Communinications. 2, a44.

Research output: Contribution to journalArticleAcademicpeer-review

Muscle physiology: move to translation

Ottenheijm, C. A. C., Jaspers, R. T., Wüst, R. C. I. & van der Velden, J., 2014, In : Journal of Muscle Research and Cell Motility. 35, 1, p. 1-2 2 p.

Research output: Contribution to journalArticleAcademicpeer-review

Muscle weakness in a S. pneumoniae sepsis mouse model

Witteveen, E., Wieske, L., Manders, E., Verhamme, C., Ottenheijm, C. A. C., Schultz, M. J., van Schaik, I. N. & Horn, J., Jan 2019, In : Annals of Translational Medicine. 7, 1, 9.

Research output: Contribution to journalArticleAcademicpeer-review

Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy

Joureau, B., de Winter, J. M., Stam, K., Granzier, H. & Ottenheijm, C. A. C., Jan 2017, In : Neuromuscular Disorders. 27, 1, p. 83-89 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

Yuen, M., Cooper, S. T., Marston, S. B., Nowak, K. J., McNamara, E., Mokbel, N., Ilkovski, B., Ravenscroft, G., Rendu, J., de Winter, J. M., Klinge, L., Beggs, A. H., North, K. N., Ottenheijm, C. A. C. & Clarke, N. F., 2015, In : Human Molecular Genetics. 24, 22, p. 6278-6292

Research output: Contribution to journalArticleAcademicpeer-review

Mutation-Specific Effects on Thin Filament Length in Thin Filament Myopathy

de Winter, J. M., Joureau, B., Lee, E-J., Kiss, B., Yuen, M., Gupta, V. A., Pappas, C. T., Gregorio, C. C., Stienen, G. J. M., Edvardson, S., Wallgren-Pettersson, C., Lehtokari, V-L., Pelin, K., Malfatti, E., Romero, N. B., van Engelen, B. G., Voermans, N. C., Donkervoort, S., Bonnemann, C. G., Clarke, N. F. & 3 others, Beggs, A. H., Granzier, H. & Ottenheijm, C. A. C., Jun 2016, In : Annals of Neurology. 79, 6, p. 959-969

Research output: Contribution to journalArticleAcademicpeer-review

Myocardial titin hypophosphorylation importantly contributes to heart failure with preserved ejection fraction in a rat metabolic risk model

Hamdani, N., Franssen, C. P. M., Lourenco, A., Falcao-Pires, I., Fontoura, D., Leite, S., Plettig, L., Lopez, B., Ottenheijm, C. A. C., Becher, P. M., Gonzalez, A., Tschope, C., Diez, J., Linke, W. A., Leite-Moreira, A. F. & Paulus, W. J., 2013, In : Circulation. Heart failure. 6, 6, p. 1239-1249

Research output: Contribution to journalArticleAcademicpeer-review

Nebulin: big protein with big responsibilities

Yuen, M. & Ottenheijm, C. A. C., 25 Jan 2020, In : Journal of Muscle Research and Cell Motility.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Nebulin, a major player in muscle health and disease

Labeit, S., Ottenheijm, C. A. C. & Granzier, H., 2011, In : FASEB Journal. 25, 3, p. 822-829

Research output: Contribution to journalArticleAcademicpeer-review

Nebulin alters cross-bridge cycling kinetics and increases thin filament activation. A novel mechanism for increasing tension and reducing tension cost

Chandra, M., Mamidi, R., Ford, S., Hidalgo, C., Witt, C. C., Ottenheijm, C. A. C., Labeit, S. & Granzier, H., 2009, In : Journal of Biological Chemistry. 284, 45, p. 30889-30896

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
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Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy

Li, F., Buck, D., de Winter, J. M., Kolb, J., Meng, H., Birch, C., Slater, R., Escobar, Y. N., Smith, J. E., Yang, L., Konhilas, J., Lawlor, M. W., Ottenheijm, C. A. C. & Granzier, H. L., 2015, In : Human Molecular Genetics. 24, 18, p. 5219-5233

Research output: Contribution to journalArticleAcademicpeer-review

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Laitila, J. M., McNamara, E. L., Wingate, C. D., Goullee, H., Ross, J. A., Taylor, R. L., van der Pijl, R., Griffiths, L. M., Harries, R., Ravenscroft, G., Clayton, J. S., Sewry, C., Lawlor, M. W., Ottenheijm, C. A. C., Bakker, A. J., Ochala, J., Laing, N. G., Wallgren-Pettersson, C., Pelin, K. & Nowak, K. J., 17 Feb 2020, In : Acta neuropathologica communications. 8, 1, 18.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access