Alberto Benincasa

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UNLABELLED Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. AIMS In recent years more than 60 patients with mutations in the CDKL5 gene have been described in the literature, but the cardiorespiratory(More)
Rett syndrome (RTT) is a devastating neurodevelopmental disorder that affects one in ten thousand girls and has no cure. The majority of RTT patients display mutations in the gene that codes for the methyl-CpG-binding protein 2 (MeCP2). Clinical observations and neurobiological analysis of mouse models suggest that defects in the expression of MeCP2 protein(More)
The glycosaminoglycans (GAG) isolated from pooled urine of preterm newborns were fractionated by stepwise elution from a Dowex 1-X2 column. Analytical reactions, cellulose acetate electrophoresis and enzymatic digestions with chondroitinases and testicular hyaluronidase were performed on each fraction. Chondroitin-4-sulfate and chondroitin-6-sulfate(More)
Rett Syndrome (RTT) is a severe neurodevelopmental disorder characterized by an apparently normal development followed by an arrest and subsequent regression of cognitive and psychomotor abilities. At present, RTT has no definitive cure and the treatment of RTT represents a largely unmet clinical need. Following partial elucidation of the underlying(More)
Rett syndrome (RTT) is a devastating neurodevelopmental disorder that has no cure. Patients show regression of acquired skills, motor, and speech impairment, cardio-respiratory distress, microcephaly, and stereotyped hand movements. The majority of RTT patients display mutations in the gene that codes for the Methyl-CpG binding protein 2 (MeCP2), which is(More)
BACKGROUND Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body systems: nervous, muscolo-skeletal, gastro-enteric. Moreover, part of the symptoms are related to the involvement of the autonomic nervous(More)
INTRODUCTION Thyroid function in Rett syndrome (RTT) has rarely been studied with unanimous results. However, this aspect is of great concern regarding the effect thyroid hormones (TH) have on proper mammalian brain development. OBJECTIVE To evaluate the prevalence of abnormalities of thyroid function in a cohort of children with RTT. PATIENTS AND(More)
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