Autosomal‐dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation von 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.

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Inhibition of prostaglandin synthesis reduces the induction of MyoD expression in rat soleus muscle von Monda, M, Vicidomini, C, Viggiano, An, Sampaolo, S, Di Iorio, G, Viggiano, Al, Viggiano, E, De Luca, B

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Autonomic neuropathy in mixed cryoglobulinemia von AMMENDOLA, A, SAMPAOLO, S, MIGLIARESI, S, AMBROSONE, L, AMMENDOLA, E, CICCONE, G, DI IORIO, G

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G.P.14.09 Successful flecainide therapy in paramyotonia congenita von Diodato, D, Farina, O, Ciccone, G, Mayer, M, Sampaolo, S, Di Iorio, G

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

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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 von De Blasiis, P., Scarpetta, S., Sansone, M., Melone, M.A.B., Iorio, Di, Sampaolo, S.

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

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Peripheral nervous system involvement in HCV-related mixed cryoglobulinemia von Migliaresi, S., Di Iorio, G., Ammendola, A., Ambrosone, L., Sanges, G., Ugolini, G., Sampaolo, S., Bravaccio, F., Tirri, G.

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Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son von Puoti, G, Carrara, F, Sampaolo, S, De Caro, M, Vincitorio, C M, Invernizzi, F, Zeviani, M

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

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C.P.1.01 Congenital fiber type disproportion and noncompaction cardiomyopathy in a patient von Sampaolo, S, Varone, A, Diodato, D, Limongelli, G, Sannino, V, Calabrò, P, Calabrò, R, Di Iorio, G

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Calreticulin mutation in a case of myopathy von 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 von Sampaolo, S., Bernardini, S., Pascarella, A., Farina, O., Terracciano, C., Lombardi, L., Napolitano, F., Esposito, T., Di Iorio, G.

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

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P.215 - Sensitivity and specificity of the PAS positive lymphocyte vacuoles in the diagnostic approach to late onset Pompe disease von Sampaolo, S., Bernardini, S., Pascarella, A., Farina, O., Terracciano, C., Lombardi, L., Napolitano, F., Esposito, T., Di Iorio, G.

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Musculoskeletal impairment and functional limitations in a patient affected by mutation in the laminin a-5 gene von Liguori, S, de Sire, A, Moretti, A, Sodano, L, Sampaolo, S, Gimigliano, Francesca, Iolascon, Giovanni

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

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Cerebral vascular anomalies in a large Italian family with late-onset glycogenosis II von Cipullo, F, Sampaolo, S, Farina, O, Simonetti, M, Cirillo, M, Di Iorio, G

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Increased Cerebrospinal Fluid Levels of 3,3′,5′-Triiodothyronine in Patients with Alzheimer’s Disease von Sampaolo, Simone, Campos-Barros, Angel, Mazziotti, Gherardo, Carlomagno, Sergio, Sannino, Vincenzo, Amato, Giovanni, Carella, Carlo, Di Iorio, Giuseppe

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