The Awjila language is a small Berber language spoken in the Libyan oasis of Awjila. It has several features that make the language different from other Berber languages, such as a phonemic accent,... Show moreThe Awjila language is a small Berber language spoken in the Libyan oasis of Awjila. It has several features that make the language different from other Berber languages, such as a phonemic accent, schwa in open syllables and the retention of the Proto-Berber *_ as v. This thesis consists of three parts: the grammar, the texts and the lexicon. The grammar is the main analytical part of this thesis, but could not exist without the in-depth study of the available Awjila texts and the lexicon. Due to the political situation in Libya, it was not possible to conduct fieldwork on the language. This thesis is therefore based on the published sources on the language. The texts and word list by Umberto Paradisi are the most important of these sources. The grammar contains a lengthy discussion on the interpretation and analysis of the transcription and phonology. This part give us many new insights into the interpretation of many factors of the language. Besides the phonology, the grammar also discusses the morphology of the noun and verb, and the syntax of the language. In the appendix all published Awjila texts have been included, provided with a phonemic transcription and a word-by-word analysis. This analysis is essential for the understanding of the language, and it is referenced extensively in the grammar. The lexicon contains all lexical material available to us on the Awjila language, with a new phonemic analysis of the transcriptions, and a full concordance of all the attestations of the words in its different grammatical forms in the available sources. The lexicon also contains some etymological notes, comparing Awjila to the other Berber languages which will aid future research into the linguistic history of Awjila and other Berber languages. Show less
Duchenne muscular dystrophy (DMD) is the most prevalent neuromuscular disorder, caused by mutations in the DMD gene that prevent synthesis of dystrophin. Fibers that lack dystrophin are sensitive... Show moreDuchenne muscular dystrophy (DMD) is the most prevalent neuromuscular disorder, caused by mutations in the DMD gene that prevent synthesis of dystrophin. Fibers that lack dystrophin are sensitive to exercise-induced damage, resulting in progressive muscle wasting, loss of ambulation and premature death. There is no cure, but several therapeutic approaches are clinically tested. At best, these clinical interventions result in the expression of low dystrophin levels. Fortunately, expression of wild type levels is not needed, as both humans and mice expressing ~50% of dystrophin do not show pathology. Detailed studies on which dystrophin levels are needed to prevent pathology and improve muscle function have been performed in this thesis. After the set-up of good outcome measures and serum biomarkers to monitor disease progression, two new innovative mouse models expressing low levels of dystrophin based on skewed X-inactivation were generated. In the mdx-Xist__hs model we observed that <15% dystrophin already improved muscle performance, while histopathology was largely with >15% dystrophin. To protect muscles from exercise-induced damage >22% dystrophin was needed. Dystrophin levels between 3-21% prevent the development of dilated cardiomyopathy in 10 months old mice. Mice lacking both dystrophin and its homologue utrophin, mimic the human phenotype and die before the age of 12 weeks. In these mice, <10% dystrophin improved life expectancy and muscle function while >10% dystrophin was needed to improve histopathology. These findings are encouraging for ongoing and future clinical trails. Show less
