Search Results - "Trevisan, Carlo P."

Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function by Trevisan, Carlo P, Pastorello, Ebe, Ermani, Mario, Angelini, Corrado, Tomelleri, Giuliano, Tonin, Paola, Mongini, Tiziana, Palmucci, Laura, Galluzzi, Giuliana, Tupler, Rossella G, Marioni, Gino, Rimini, Alessandro

“…Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant progressive myopathy, characteristically associated with a 4q35 deletion. In the unusual…”
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Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy by Pastorello, Ebe, Cao, Michelangelo, Trevisan, Carlo P

“…Abstract Introduction FacioScapuloHumeral Muscular Dystrophy (FSHD), a disease linked to a heterozygous D4Z4 deletion on chromosome 4q35, typically starts with…”
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Dominant muscular dystrophy with a novel SYNE1 gene mutation by Fanin, Marina, Savarese, Marco, Nascimbeni, Anna C., Di Fruscio, Giuseppina, Pastorello, Ebe, Tasca, Elisabetta, Trevisan, Carlo P., Nigro, Vincenzo, Angelini, Corrado

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Liver transplantation for Wilson's disease: The burden of neurological and psychiatric disorders by Medici, Valentina, Mirante, Vincenzo G., Fassati, Luigi R., Pompili, Maurizio, Forti, Domenico, Del Gaudio, Massimo, Trevisan, Carlo P., Cillo, Umberto, Sturniolo, Giacomo C., Fagiuoli, Stefano

“…A retrospective data analysis on liver transplantation for Wilson's disease (WD) was performed among Italian Liver Transplant Centers. Thirty‐seven cases were…”
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Undiagnosed myopathy before surgery and safe anaesthesia table by Trevisan, Carlo P, Accorsi, Alma, Morandi, Lucia O, Mongini, Tiziana, Savoia, Gennaro, Gravino, Elvira, Angelini, Corrado, Tegazzin, Vincenzo

“…Patients with muscle pathology are a challenge for anaesthesiologists because of possible life-threatening general anaesthesia complications. A review of the…”
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Ataxia and Congenital Muscular Dystrophy: the follow-up of a new specific phenotype by Trevisan, Carlo P, Pastorello, Ebe, Tonello, Simone, Armani, Mario, Rigoni, Maria T, Tormene, Alma P, Freda, Maria P, Zortea, Michela, Lombardi, Stefania

“…Cerebellar hypoplasia may, at neuroimaging studies, be found in association with congenital muscular dystrophy (CMD), although it is an extremely rare…”
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Integrin α7β1 in Muscular Dystrophy/Myopathy of Unknown Etiology by Pegoraro, Elena, Cepollaro, Fulvio, Prandini, Paola, Marin, Alessandra, Fanin, Marina, Trevisan, Carlo P., El-Messlemani, Abdul Hassib, Tarone, Guido, Engvall, Eva, Hoffman, Eric P., Angelini, Corrado

“…To investigate the role of integrin α7 in muscle pathology, we used a “candidate gene” approach in a large cohort of muscular dystrophy/myopathy patients…”
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Tau missing from csf : a case report by ALBERICI, Antonella, ARMANI, Mario, TREVISAN, Carlo P, GROWDON, John H, BORRONI, Barbara, PADOVANI, Alessandro, ROSSINI, Paolo M, BINETTI, Giuliano, PATERLINI, Anna, BENUSSI, Luisa, FRANCESCA NICOSIA, GHIDONI, Roberta, SIGNORINI, Simona, COTELLI, Maria, FRISONI, Giovanni B, GEROLDI, Cristina

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Clinical and molecular study in congenital muscular dystrophy with partial laminin ?2 (LAMA2) deficiency by Tezak, Zivana, Prandini, Paola, Boscaro, Marco, Marin, Alessandra, Devaney, Joseph, Marino, Michael, Fanin, Marina, Trevisan, Carlo P., Park, Julie, Tyson, Weslie, Finkel, R., Garcia, Carlos, Angelini, Corrado, Hoffman, Eric P., Pegoraro, Elena

“…Complete laminin ±2 (LAMA2) deficiency causes approximately half of congenital muscular dystrophy (CMD) cases. Many loss-of-function mutations have been…”
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Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis by Saad, Fawzy A., Mostacciuolo, Maria L., Trevisan, Carlo P., Tomelleri, Giuliano, Angelini, Corrado, Salam, Ekram Abdel, Danieli, Gian Antonio

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Clinical and molecular study in congenital muscular dystrophy with partial laminin α2 (LAMA2) deficiency by Tezak, Zivana, Prandini, Paola, Boscaro, Marco, Marin, Alessandra, Devaney, Joseph, Marino, Michael, Fanin, Marina, Trevisan, Carlo P., Park, Julie, Tyson, Weslie, Finkel, R., Garcia, Carlos, Angelini, Corrado, Hoffman, Eric P., Pegoraro, Elena

“…Complete laminin α2 (LAMA2) deficiency causes approximately half of congenital muscular dystrophy (CMD) cases. Many loss‐of‐function mutations have been…”
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Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology by Pegoraro, Elena, Cepollaro, Fulvio, Prandini, Paola, Marin, Alessandra, Fanin, Marina, Trevisan, Carlo P, El-Messlemani, Abdul Hassib, Tarone, Guido, Engvall, Eva, Hoffman, Eric P, Angelini, Corrado

“…To investigate the role of integrin alpha 7 in muscle pathology, we used a "candidate gene" approach in a large cohort of muscular dystrophy/myopathy patients…”
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Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency by Tezak, Zivana, Prandini, Paola, Boscaro, Marco, Marin, Alessandra, Devaney, Joseph, Marino, Michael, Fanin, Marina, Trevisan, Carlo P, Park, Julie, Tyson, Weslie, Finkel, R, Garcia, Carlos, Angelini, Corrado, Hoffman, Eric P, Pegoraro, Elena

“…Complete laminin alpha2 (LAMA2) deficiency causes approximately half of congenital muscular dystrophy (CMD) cases. Many loss-of-function mutations have been…”
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Long term experience in Wilson disease treatment by Medici, Valentina, D'Inca, Renata, Barollo, Michela, Trevisan, Carlo P., Zancan, Lucia, Sturniolo, Giacomo C.

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Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy by MOSTACCIUOLO, M. L, MIORIN, M, MARTINELLO, F, ANGELINI, C, PERINI, P, TREVISAN, C. P

“…Congenital muscular dystrophy (CMD) is a heterogeneous disease with autosomic recessive transmission. In an epidemiological study in four provinces of Veneto…”
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Integrin {alpha}7{beta}1 in Muscular Dystrophy/Myopathy of Unknown Etiology by Pegoraro, Elena, Cepollaro, Fulvio, Prandini, Paola, Marin, Alessandra, Fanin, Marina, Trevisan, Carlo P, El-Messlemani, Abdul Hassib, Tarone, Guido, Engvall, Eva, Hoffman, Eric P, Angelini, Corrado

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Prenatal diagnosis in congenital muscular dystrophy by Muntoni, F, Sewry, C, Wilson, L, Angelini, C, Trevisan, C P, Brambati, B, Dubowitz, V

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Brain alterations in the classical form of congenital muscular dystrophy : Clinical and neuroimaging follow-up of 12 cases and correlation with the expression of merosin in muscle by TREVISAN, C. P, MARTINELLO, F, FERRUZZA, E, FANIN, M, CHEVALLAY, M, TOME, F. M. S

“…In the classical form of congenital muscular dystrophy (CMD), subclinical brain involvement is frequent. In order to establish the natural evolution of CNS…”
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Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up by Trevisan, C P, Martinello, F, Ferruzza, E, Angelini, C

“…We report the clinical and neuroradiological follow-up of 2 Italian sisters, 10 and 6 years of age, affected by congenital muscular dystrophy (CMD) with…”
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Prevalence of unsuspected myopathy in infants presenting for clubfoot surgery by Zanette, G, Manani, G, Pittoni, G, Angelini, C, Trevisan, C P, Turra, S

“…The objective of this study was an evaluation of the prevalence of myopathies in paediatric patients scheduled for orthopaedic surgery (clubfoot) performed…”
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