Search Results - "Sampaolo, S."

Autosomal‐dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation by Napolitano, F., Di Iorio, V., Testa, F., Tirozzi, A., Reccia, M.G., Lombardi, L., Farina, O., Simonelli, F., Gianfrancesco, F., Di Iorio, G., Melone, M.A.B., Esposito, T., Sampaolo, S.

“…We recently described a complex multisystem syndrome in which mild‐moderate myopia segregated as an independent trait. A plethora of genes has been related to…”
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Inhibition of prostaglandin synthesis reduces the induction of MyoD expression in rat soleus muscle by Monda, M, Vicidomini, C, Viggiano, An, Sampaolo, S, Di Iorio, G, Viggiano, Al, Viggiano, E, De Luca, B

“…MyoD is a myogenic regulatory factor with a critical role in skeletal muscle development and regeneration. As muscle regeneration comes with an inflammatory…”
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Autonomic neuropathy in mixed cryoglobulinemia by AMMENDOLA, A, SAMPAOLO, S, MIGLIARESI, S, AMBROSONE, L, AMMENDOLA, E, CICCONE, G, DI IORIO, G

“…A retrospective, cross-sectional study was performed on a series of HCV-related mixed cryoglobulinemia (HCV-MC) patients to assess autonomic neuropathy (AN)…”
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G.P.14.09 Successful flecainide therapy in paramyotonia congenita by Diodato, D, Farina, O, Ciccone, G, Mayer, M, Sampaolo, S, Di Iorio, G

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G.P.9.07 Congenital fibre type disproportion and non-compaction cardiomyopathy associated with insulin resistance by Diodato, D, Sampaolo, S, Varone, A, Limongelli, G, Simonetti, M, Calabrò, P, Calabrò, R, Iorio, G. Di

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Primary cerebral toxoplasmosis: a rare case of ventriculitis and hydrocephalus in AIDS by Sell, M, Klingebiel, R, Di Iorio, G, Sampaolo, S

“…We describe the clinical, radiological and neuropathological findings in an adult AIDS patient presenting with ventriculitis and hydrocephalus as the primary…”
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Peripheral nervous system involvement in HCV-related mixed cryoglobulinemia by Migliaresi, S., Di Iorio, G., Ammendola, A., Ambrosone, L., Sanges, G., Ugolini, G., Sampaolo, S., Bravaccio, F., Tirri, G.

“…In HCV-related mixed cryoglobulinemia (MC) a peripheral neuropathy (PN) may occur. To evaluate the prevalence and the characteristics of PN, 133 consecutive…”
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Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son by Puoti, G, Carrara, F, Sampaolo, S, De Caro, M, Vincitorio, C M, Invernizzi, F, Zeviani, M

“…All these complexes, except complex II, which is entirely nucleus encoded, contain both nucleus and mitochondrion encoded subunits, and their biosynthesis also…”
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Chordomas: a histological and immunohistochemical study of cases with and without recurrent tumors by Sell, M, Sampaolo, S, Di Lorio, G, Theallier, A

“…Chordomas are rare, slow-growing and often recurrent neoplasms being composed of various cell types (physaliferous, epitheloid, chondroid), thus, showing a…”
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C.P.1.01 Congenital fiber type disproportion and noncompaction cardiomyopathy in a patient by Sampaolo, S, Varone, A, Diodato, D, Limongelli, G, Sannino, V, Calabrò, P, Calabrò, R, Di Iorio, G

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Clinical and 3D instrumental assessment of the short-term effect of Sativex on patients with multiple sclerosis by De Blasiis, P., Siani, M.F., Iolascon, G., Sansone, M., Signoriello, E., Sampaolo, S., Lus, G.

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Peripheral nervous system involvement in Klippel-Trenaunay syndrome by Di Iorio, G, Sanges, G, Sannino, V, De Cristofaro, M, D'Ambrosio, M R, Budillon, A, Sampaolo, S

“…Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation of unknown etiology characterized by cutaneous hemangiomas, venous varicosities and bony and…”
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New model of marker placement to assess sagittal spine and lower limb during sit to stand: Typical kinematic pattern in LOPD by De Blasiis, P., Scarpetta, S., Sansone, M., Melone, M.A.B., Iorio, Di, Sampaolo, S.

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Postural and gait patterns assessed by 3D movement analysis in a late onset Pompe disease sibship by De Blasiis, P., Mazzoli, D., Farina, O., Lombardi, L., Melone, M., Di Iorio, G., Sampaolo, S.

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P.223 - Postural and gait patterns assessed by 3D movement analysis in a late onset Pompe disease sibship by De Blasiis, P., Mazzoli, D., Farina, O., Lombardi, L., Melone, M., Di Iorio, G., Sampaolo, S.

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Craniofacial pain followed by scalp necrosis and stroke. An unusual presentation of the primary antiphospholipid syndrome by Sanges, G, Sampaolo, S, Di Iorio, G

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Lack of sodium channel mutation in an italian family with paramyotonia congenita by SAMPAOLO, S, PUCA, A. A, NIGRO, V, CAPPA, V, SANNINO, V, SANGES, G, BONAVITA, V, DI IORIO, G

“…To conduct the genotype-phenotype correlation in a family in which several individuals share clinical and electrophysiologic features of paramyotonia congenita…”
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Calreticulin mutation in a case of myopathy by Sampaolo, S., de Lucia, D., Lombardi, l., Casertano, S., Rossi, F., Fratta, M., Di Francia, R., Di Iorio, G.

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P.445 - Calreticulin mutation in a case of myopathy by Sampaolo, S., de Lucia, D., Lombardi, l., Casertano, S., Rossi, F., Fratta, M., Di Francia, R., Di Iorio, G.

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Sensitivity and specificity of the PAS positive lymphocyte vacuoles in the diagnostic approach to late onset Pompe disease by Sampaolo, S., Bernardini, S., Pascarella, A., Farina, O., Terracciano, C., Lombardi, L., Napolitano, F., Esposito, T., Di Iorio, G.

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