13 research outputs found
Breeding strategies to improve grain yield and quality of short-season spring wheat for the steppe of Kazakhstan and Siberia
Axial stiffness and ring deformation of complete and incomplete single ring circular external skeletal fixator constructs
Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management
Cross-reaction between Formosan termite (Coptotermes formosanus) proteins and cockroach allergens
Graphite as an effective catalyst for Michael addition of indoles to nitroolefins in aqueous alcoholic solution
Charcot–Marie–Tooth disease
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders presenting with the phenotype of a chronic progressive neuropathy affecting both the motor and sensory nerves. During the last decade over two dozen genes have been identified in which mutations cause CMT. The disease illustrates a multitude of genetic principles, including diverse mutational mechanisms from point mutations to copy number variation (CNV), allelic heterogeneity, age-dependent penetrance and variable expressivity. Population based studies have determined the contributions of the various genes to disease burden enabling evidence-based approaches to genetic testing