Remerciements
La fragilité héréditaire des nerfs périphériques à la compression : Une étude électrophysiologique et génétique
1. Summary
1.1 Abstract
1.2 Résumé
2. Introduction
2.1 Historical background, clinical presentation and evolution
2.2 Electrophysiological aspects
2.3 Pathology and histological aspects
2.4 Diagnosis of HNPP
2.4.1 Differential diagnosis of HNPP and classification
3. Genetics and molecular understanding of HNPP
4. The investigation
4.1 Aim of the investigation
4.2 Methods
4.2.1 Study subjects and HNPP probability scoring
4.2.2 Overview of the techniques
4.2.3 An introduction to fluorescent in situ hybridisation (FISH)
4.2.4 Summary of the FISH procedure used in the study
5. Results
5.1 Overview
5.2.1 Clinical and laboratory data
5.2.2 Laboratory (FISH) data
6. Discussion
7. Annexes
8. Bibliography