Molecular characterisation of SGCE-associated myoclonus-dystonia ...

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Appendix 119 9.5 Acknowledgements The work presented in this thesis was performed in the Neurogenetics Group under the supervision of Professor Christine Klein at the University of Lübeck, Lübeck, Germany. Some of the experiments were carried out in Professor Vincenzo Bonifati’s Department of Clinical Genetics at the Erasmus MC, Rotterdam, The Netherlands. Furthermore, a part was conducted at the Department of Clinical Neurosciences at the University College London, London, UK under the supervision of Professor Anthony Schapira. I would like to begin by thanking Professor Enno Hartmann, the Head of the Institute of Biology, for the representation of this thesis at the Faculty of Natural Sciences of the University of Lübeck. I am deeply indebted to my supervisor Professor Christine Klein whose support, stimulating suggestions and encouragement helped me throughout my time of research and while writing this thesis. I am very thankful for her critical review of my publications and for the scientific freedom. Furthermore, I would like to thank her for the opportunity to gain international experience at the laboratories of Professor Vincenzo Bonifati and Professor Anthony Schapira. My colleagues from the Neurogenetics Group in Lübeck greatly supported me throughout my research period. I would like to cordially thank all of them for their continuous interest, patience, help, and valuable hints. Especially, I am obliged to Dr. Katja Lohmann, Dr. Ana Djarmati, Dr. Slobodanka Orolicki and Dr. Norman Kock. Philip Seibler, my Mensa associate, and Aleksandar Raković taught me how to believe in the impossible. I also want to thank Sylwia Dankert, Thora Lohnau, Karin Wiegers, Heike Pawlak and Susen Winkler for their technical assistance, advice and for creating a lovely atmosphere in the lab. Professor Anthony Schapira I would like to thank for the warm welcome in his department and Dr. Willem Taanman for introducing me to the world of mitochondria. Dr. Matthew Gegg kindly shared all his mitochondria knowledge with me and thoroughly reviewed the final version of this thesis. I thank him for his scientific advice and his incredible patience when teaching me how to perform kinetic assays.
Appendix 120 I would like to thank my friends from the “Röntgen-Straße”. Astrid Büchler, Henrike Preis, Michael Glodek, Winfried Schöch, Dennis Pfisterer and Marie-Christine Kuhl: You turned my time in Lübeck into the best period of my entire studies. I cherish our many ventures together and hope that we will be able to stay in touch despite the distances that may come between us. From Todor Kondić I have learned to always think positive. I would like to give my special thanks to my parents, grandparents and my godmother who believed in me and whose love enabled me to complete this work. Finally, of course there are many other co-workers who I collaborated with during my research period, and many dear friends who accompanied me all along, who I am grateful to and I apologize if I may have forgotten to mention them individually.
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Aus der Klinik für Neurologie (Pro
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This thesis is dedicated to my fami
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List of content II 2.2.6 Equipment
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List of tables VI LIST OF TABLES Ta
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Introduction 2 The EPS has been imp
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Introduction 4 7, 9, 10, 13, and 15
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Introduction 6 chromosome contained
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Introduction 8 PD is the most commo
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Introduction 10 results in a p.W437
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Introduction 12 showed good respons
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Introduction 14 sequentially from o
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Introduction 16 favourable (Boyer,
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Introduction 18 1.5 Hypotheses The
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Patients, material and methods 20 T
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III:1 F2129 II:1 IP2123 III:2 F2130
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Patients, material and methods 26 H
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Patients, material and methods 28 S
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Patients, material and methods 36 b
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Results 46 3 RESULTS This thesis is
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Table 5 Demographic, clinical and g
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Results 50 Fig 8 (previous page) Re
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Results 52 Fig 9 (previous page) Sc
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Results 54 3.1.4 Qualitative mutati
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Results 56 3.2 Parkinson’s diseas
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Results 58 3.2.2 Haplotype analysis
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Results 60 sequence alterations wer
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Results 62 3.3 Parkinson’s diseas
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Results 64 activity in the nonsense
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Results 66 4.00 3.50 Basal conditio
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Page 101 and 102: References 92 8 REFERENCES Abou-Sle
Page 103 and 104: References 94 Butler AG, Duffey PO,
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Page 107 and 108: References 98 Hedrich K, Hagenah J,
Page 109 and 110: References 100 Klein C, Lohmann-Hed
Page 111 and 112: References 102 Martin MA, Molina JA
Page 113 and 114: References 104 Piccoli C, Sardanell
Page 115 and 116: References 106 Schüle B, Kock N, S
Page 117 and 118: References 108 Wharton DC, Tzagolof
Page 119 and 120: Appendix 110 FL - Fluorescence emis
Page 121 and 122: Appendix 112 9.2 Supplementary mate
Page 123 and 124: Appendix 114 Table S4 Primer for th
Page 125 and 126: Appendix 116 04 - 06/2006 Erasmus M
Page 127: Appendix 118 ABSTRACTS 1. Grünewal
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