Chiara Panicucci

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Pontocerebellar hypoplasia (PCH) type 1 is characterized by the co-occurrence of spinal anterior horn involvement and hypoplasia of the cerebellum and pons. EXOSC3 has been recently defined as a major cause of PCH type 1. Three different phenotypes showing variable severity have been reported. We identified a homozygous mutation [c.395A > C/p.D132A] in(More)
Black older women were found to have a high mean level of adherence to recommended health-protecting behaviors. Participants perceived that adherence to health-protecting behaviors played a highly important role in helping them to live a long and health life. Nurses must direct increased attention and intervention to the importance of practicing primary(More)
It is argued that the analysis-of-variance model is inappropriate for assessing treatment effects in single-subject designs. In particular, such designs are demonstrated to violate the crucial assumption concerning the statistical independence of observations. Alternative methods of data analysis are suggested.
Infiltration of immune cells and chronic inflammation substantially affect skeletal and cardiac muscle degeneration in Duchenne muscular dystrophy. In the immune system, extracellular adenosine triphosphate (ATP) released by dying cells is sensed as a danger associated molecular pattern through P2 purinergic receptors. Specifically, the P2X7 subtype has a(More)
Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene encoding a key enzyme of the glycosylation pathway have been described in families with congenital (CMD) and limb girdle (LGMD) muscular dystrophy with reduced alpha-dystroglycan (α-DG) at muscle biopsy.Patients typically display a combined phenotype of muscular(More)