Rui Guerreiro

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most prevalent monogenic cerebral small vessel diseases caused by a mutation in the NOTCH3 gene. The clinical manifestations of CADASIL range from single or multiple lacunar infarcts, transient ischemic attacks, dementia, migraine with aura to(More)
Background. The mutation 9185T>C in ATP6 gene, associated with Leigh syndrome, was reported in only few families. Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation. Case Report. 33-year-old male, with family history of mitochondrial disease, presented with cognitive(More)
A retrospective study of the newborns who were submitted to mechanical ventilation at the Neonatal Intermediate Care Unit was made between July 1991 and June 1994. Mechanical ventilation in such a unit should be transitory and not exceed 24 hours. Information concerning pregnancy, labour, neonates, type of ventilation and its problems was gathered. Forty(More)