Learn More
Duchenne muscular dystrophy (DMD), a severe and lethal condition, is caused by the absence of muscle dystrophin. Therapeutic trials aiming at the amelioration of muscle function have been targeting the production of muscle dystrophin in affected Duchenne patients. However, how much dystrophin is required to rescue the DMD phenotype remains an open question.(More)
The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case To the Editor: A dominant missense mutation p.P56S in the vesicle associated membrane protein associated protein B (VAPB) gene was described in eight Brazilian families of Portuguese descent showing a wide spectrum of motor neuron diseases (MNDs) including spinal(More)
The purpose of this study was to compare the two methods—guidewire localisation and the radioguided occult lesion localisation—used in the localisation and surgical removal of non-palpable breast tumours. This retrospective study enrolled patients diagnosed with nonpalpable malignant breast tumours. In this study either guidewire localisation (GWL, n = 69)(More)
  • 1