Roberto Salati

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The functional properties of proteins [capsid protein (CP), V1, and C4] potentially involved with movement of the monopartite begomovirus, Tomato yellow leaf curl virus (TYLCV), were investigated using microinjection of Escherichia coli expressed proteins and transient expression of GFP fusion proteins. The TYLCV CP localized to the nucleus and nucleolus(More)
We recently showed that mutations in the CNGA3 gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the results of a first comprehensive screening for CNGA3 mutations in a cohort of 258 additional independent families with hereditary cone(More)
Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341(More)
Cone dystrophy with supernormal rod response (CDSRR) is considered to be a very rare autosomal recessive retinal disorder. CDSRR is associated with mutations in KCNV2, a gene that encodes a modulatory subunit (Kv8.2) of a voltage-gated potassium channel. In this study, we found that KCNV2 mutations are present in a substantial fraction (2.2-4.3%) of a(More)
The aim of the study was to describe ocular motility in a sample of 56 patients affected by cerebral visual impairment (CVI) of hypoxic-ischemic origin. The sample consisted of 56 participants (37 males and 19 females), ranging in age from 2 to 16 years. In all cases CVI was associated with MRI-verified damage of the cerebral visual system. A complete(More)
PURPOSE To present a checklist for the evaluation of low vision in uncooperative patients; in this specific case, children with neurological deficits. METHOD The checklist includes several behavioral indicators obtainable with a standard clinical examination. Each test is assigned a score (0=failure, 1=success). The final visual quotient score is obtained(More)
Infants with cerebral palsy (CP) frequently present cerebral visual impairment (CVI) often caused by damage to retrochiasmatic pathways. This is particularly true of subjects with damage to the periventricular white matter. Thirty-eight preterm infants with periventricular leukomalacia (PVL) diagnosed by MRI were examined to correlate binocular visual(More)
Twelve non-obese patients with radiolucent gallstones were fed on a standard diet. After 10 days (period A), six patients received 15 mg/kg/day of ursodeoxycholic acid (UDCA) (group I) and the other six (group II) the same dose of chenodeoxycholic acid (CDCA) for 15 days (period B). An intravenous injection of 20 micro Ci of 14C-UDCA and of 14C-CDCA was(More)
The morphology of red blood cells was studied in 30 patients with severe liver cirrhosis, in 10 patients with extrahepatic jaundice, and in 10 control subjects. In all the patients with extrahepatic jaundice more than 30% of red blood cells were target cells with increased resistance to osmotic lysis. In 12 patients with liver cirrhosis more than 30% of red(More)
Mutations in the brain-specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine type 1 (FHM1). SCA6 is associated with small expansions of a CAG repeat at the 3' end of the gene, while point(More)