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Application of microarray-based gene expression technology to neuromuscular disorders Sterrenburg, P.J.E.

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technology to neuromuscular disorders

Sterrenburg, P.J.E.

Citation

Sterrenburg, P. J. E. (2007, January 18). Application of microarray-based gene expression technology to neuromuscular disorders. Retrieved from https://hdl.handle.net/1887/8914

Version: Corrected Publisher’s Version

License: Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden

Downloaded from: https://hdl.handle.net/1887/8914

Note: To cite this publication please use the final published version (if applicable).

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Application of microarray-based

gene expression technology to

neuromuscular disorders

Ellen Sterrenburg

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Application of microarray-based

gene expression technology to

neuromuscular disorders

Proefschrift

ter verkrijging van

de graad van Doctor aan de Universiteit Leiden, op gezag van de Rector Magnifi cus Dr. D.D. Breimer,

hoogleraar in de faculteit der Wiskunde en Natuurwetenschappen en die der Geneeskunde,

volgens besluit van het College voor Promoties te verdedigen op donderdag 18 januari 2007

klokke 15:00 uur

door

Petronella Johanna Elisabeth Sterrenburg geboren te Eindhoven in 1977

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Promotores Prof. Dr. G.J.B. van Ommen Prof. Dr. Ir. S.M. van der Maarel Co-pomotor Dr. J.T. den Dunnen

Referent Prof. Dr. A.F.M. Moorman (AMC, Amsterdam)

Overige leden Prof. Dr. B.G.M. van Engelen (UMC St. Radboud, Nijmegen) Dr. M. Antoniou (King’s College, London)

The research described in this thesis was performed in the Department of Human Genetics, Leiden University Medical Center, The Netherlands and was supported by grants from NWO and from the European Commission (TRI-EX QLG2-CT-2001-01673).

Cover: Myotubes stained for diff erent myogenic markers

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-Do not wait for a reason to be happy - Mason Cooley

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ISBN-10: 90-9021351-1 ISBN-13: 978-90-9021351-4 Sterrenburg, P.J.E.

Application of microarray-based gene expression technology to neuromuscular disorders. Thesis, Leiden University Medical Center

January 18, 2007

© 2007 Ellen Sterrenburg

No part of this thesis may be reproduced or transmitted in any form or by any means, without the written permission of the copyright owner

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Contents

Chapter 1 Introduction 9

Chapter 2 A common reference in cDNA microarrays 41

Nucleic Acids Research, 2002, 30(21): e116 Chapter 3 Large-scale gene expression analysis of human skeletal 51

myoblast diff erentiation Neuromuscular disorders, 2004, 14(8-9): 507 Chapter 4 Gene expression profl iling highlights defective myogenesis 67

in DMD patients and a possible role for bone morphogenetic protein 4 Neurobiology of Disease, 2006, 23(1): 228 Chapter 5 Cellular model for oculopharyngeal muscular dystrophy 79

reveals an extracellular matrix defect Submitted for publication Chapter 6 Discussion 101

Summary 117

Samenvatting 119

List of publications 121

Curriculum vitae 123

Appendix 125

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