Rachele Piras

Learn More
Mutations on the LMNA gene are responsible for an heterogeneous group of diseases. Overlapping syndromes related to LMNA gene alterations have been extensively reported. Study scope is to perform a systematic analysis of the overlapping syndromes so far described and to try to correlate the clinical features to the associated genetic alterations. We(More)
The following is a report on a large family with 5 males affected by the X-linked recessive form of Emery-Dreifuss muscular dystrophy with mutation in the STA gene. A detailed longitudinal cardiological evaluation and muscle imaging studies allowed for the assessment of intrafamilial variability of cardiac and muscle involvement. Long term cardiological(More)
Five Sardinian patients presented in their 5th or 6th decade with progressive limb girdle muscle weakness but their muscle biopsies showed vacuolar myopathy. The more or less abundant subsarcolemmal and intermyofibrillar vacuoles showed intense, partially α-amylase resistant, PAS-positive deposits consistent with polyglucosan. The recent description of(More)
Comprehensive neuro-rehabilitation of the children with mental problems improved their clinical and emotional background , memory and cognitive functions. EEG and NEC examination marked the trends in recovery of inter-hemispheric connections and in normalization of the bioelectrical activity in the brain. The objective to identify appropriate outcome(More)
Other potential modes of metabolic therapy include: 1.Supplementation of the missing compound, e.g. CoQ10 which is effective only in primary Q10 deficiency and is given to most patients with mitochondrial disorders even if deficiency is not tested; 2. Pharmacologically increasing the oxidative capacity of muscle (by giving various 'cocktails' of oxygen(More)
  • 1