M. G. Bianco

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We characterized 29 unrelated patients presenting with the severe form of Pompe disease (Glycogen Storage Disease Type II, acid maltase deficiency) and identified 26 pathogenic mutations divided over 28 different genotypes. Among the eight new mutations, five were exonic point mutations (c.572A>G, c.1124G>T, c.1202A>G, c.1564C>G and c.1796C>A) leading to(More)
Pelizaeus-Merzbacher disease (PMD) is an X-linked myelination disorder most frequently caused by duplication of a genomic segment of variable length containing the PLP1 gene. We studied five PMD male patients affected by the classic PMD form carrying a PLP1 gene duplication. On the basis of clinical and neuroradiological features, two of the five patients(More)
Ethological communication permits the exchange of context-specific information among mammals. In recent literature, many investigations have been performed on behavioral responses but little is known about neurophysiological pattern activation. In this study we investigated neuron patterns in response to ultrasound vocalizations, mapping the auditory cortex(More)
In this paper we investigated neural activation by means of electrical impulses delivered along the auditory pathway in rats. The pulsed electrical signals, generated by a bio-inspired sonar system and processed by an electronic interface, were used to stimulate the amygdala, the inferior colliculus and the auditory cortex. We modulated the neural activity(More)
Apnea in the paediatric population is associated with increased morbidity and mortality in a large number of developed as well as developing countries. It is even more prominent in preterm newborn infants and is commonly referred to as apnea of prematurity. Its current diagnosis and therapy involve the use of traditional technologies which often result in(More)
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