Search Results - "Menegazzo, E."

Homozygous α-sarcoglycan mutation in two siblings: One asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient by Angelini, Corrado, Fanin, Marina, Menegazzo, Elisabetta, Freda, Maria Pia, Duggan, David J., Hoffman, Eric P.

“…We describe a couple of siblings who have a homozygous mutation in the α‐sarcoglycan gene and present a striking clinical difference in their phenotype; the…”
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Control of semiconductor particle size in sol-gel thin films by Guglielmi, M., Martucci, A., Menegazzo, E., Righini, G. C., Pelli, S., Fick, J., Vitrant, G.

“…Thin silica and silica-titania films containing CdS and PbS quantum size particles were obtained by separate preparation of the matrix and the colloidal sols…”
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Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients by Gennarelli, M, Pavoni, M, Amicucci, P, Angelini, C, Menegazzo, E, Zelano, G, Novelli, G, Dallapiccola, B

“…Myotonic dystrophy (DM) is a multisystemic disease caused by expansion of a CTG trinucleotide repeat in the 3′ untranslated region of the DMPK protein kinase…”
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Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats by Novelli, G., Gennarelli, M., Menegazzo, E., Angelini, C., Dallapiccola, B.

“…A myotonic dystrophy (DM) family is described in which discordant DM phenotypes were found in the children of two affected sisters with similar CTG expansion…”
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Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation by MASTROGIACOMO, I, PAGANI, E, NOVELLI, G, ANGELINI, C, GENNARELLI, M, NEMEGAZZO, E, BONANNI, G, DALLAPICCOLA, B

“…The Authors considered the relationship between hypogonadism in myotonic dystrophy (MD) and MT-PK gene mutation. Twenty-seven subjects were studied, and the…”
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Sol-gel materials embedding fullerene derivatives for optical limiting by Meneghetti, M., Signorini, R., Zerbetto, M., Bozio, R., Maggini, M., Scorrano, G., Prato, M., Brusatin, G., Menegazzo, E., Guglielmi, M.

“…Fullerene derivatives with high solubilities in polar solvents and able to covalently link to a silica matrix, have been prepared. Optical limiting (OL)…”
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Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients by Marcon, M, Briani, C, Ermani, M, Menegazzo, E, Iurilli, V, Feltrin, G P, Novelli, G, Gennarelli, M, Angelini, C

“…Alteration of the pharyngoesophageal musculature is a common finding in patients with myotonic dystrophy (MD), regardless of the presence of dysphagia. The aim…”
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Clinical and hormonal aspects of male hypogonadism in myotonic dystrophy by Mastrogiacomo, I, Bonanni, G, Menegazzo, E, Santarossa, C, Pagani, E, Gennarelli, M, Angelini, C

“…In order to study male hypergonadotropic hypogonadism as completely as possible, and to evaluate its possible effects on muscle atrophy and sexuality, RIA or…”
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Quality in management of biomedical equipment by Rainer, W, Menegazzo, E, Wiedmer, A

“…The project described in this paper concerns the assurance of quality in biomedical equipment management. The project commenced in 1988 with the establishment…”
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DO MÉTODO À AUTONOMIA DO FAZER CRÍTICO by Rosana E. Menegazzo, Rosely Perez Xavier

“…This article revisits the notion of method and tracks the second/foreign language teaching based on the application of methods. It also brings the postmethod…”
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Multifactorial study of inflammatory myopathies. Report of 29 cases by Angelini, C, Menegazzo, E, Fanin, M

“…We made a comparative clinical, immunopathological and therapeutic evaluation in 17 patients with polymyositis (PM) and 12 patients with dermatomyositis (DM),…”
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Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats by Gennarelli, M., Novelli F., G., Bassi, Andreasi, Martorell, L., Cornet, M., Menegazzo, E., Mostacciuolo, M.L., Martinez, J.M., Angelini, C., Pizzuti, A., Baiget, M., Dallapiccola, B.

“…We carried out a genotype‐phenotype correlation study, based on clinical findings in 465 patients with myotonic dystrophy (DM), in order to assess [CTG] repeat…”
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Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation by Wang, J, Pegoraro, E, Menegazzo, E, Gennarelli, M, Hoop, R C, Angelini, C, Hoffman, E P

“…The trinucleotide expansion mutation causing myotonic dystrophy is in the 3' untranslated region of a protein kinase gene. The molecular mechanisms by which…”
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Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients by Perini, Giulia I., Menegazzo, Elisabetta, Ermani, Mario, Zara, Michele, Gemma, Andrea, Ferruzza, Emilia, Gennarelli, Massimo, Angelini, Corrado

“…Background: Myotonic dystrophy (DM) is a genetic multisystemic disease with muscular, endocrine, ocular, cardiac and cognitive impairment. The molecular basis…”
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Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy by Melacini, Paola, Villanova, Carla, Menegazzo, Elisabetta, Novelli, Giuseppe, Danieli, Gianantonio, Rizzoli, Giulio, Fasoli, Giuseppe, Angelini, Corrado, Buja, Gianfranco, Miorelli, Manuela, Dallapiccola, Bruno, Volta, Sergio Dalla

“…Objectives. Because sudden death due to complete atrioventricular (AV) block or ventricular arrhythmias is the most dramatic event in myotonic dystrophy, we…”
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(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients by Novelli, G, Gennarelli, M, Menegazzo, E, Mostacciuolo, M L, Pizzuti, A, Fattorini, C, Tessarolo, D, Tomelleri, G, Giacanelli, M, Danieli, G A

“…A genotype-phenotype study based on the primary clinical features of adult myotonic dystrophy (DM) included 116 patients from 62 Italian pedigrees. A…”
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Effect of modified Hedström files on instrumentation area produced by ProFile® instruments in oval canals by Iqbal, Mian Khalid, Karabucak, Bekir, Brown, Michael, Menegazzo, Erick

“…To study the effect of a modified Hedström file called IqFile on the instrumentation shape of oval canals prepared with ProFile® instruments. Fifty extracted…”
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SPECT and PET imaging, Apo-E genotype and cognitive dysfunction in myotonic dystrophy patients by Menegazzo, E

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Cognitive dysfunction and brain imaging (SPET, PET) in genetically defined myotonic dystrophy (DM) patients by Perini, G., Menegazzo, E., Ferruzza, E., Marcadella, S., Angelini, C., Chierichetti, F., Ferlin, G., Infantolino, D., Gennarelli, M., Novelli, G.

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Sol-Gel Deposited Sb-Doped Tin Oxide Films by Guglielmi, M, Menegazzo, E, Paolizzi, M, Gasparro, G, Ganz, D, Pütz, J, Aegerter, MA, Hubert-Pfalzgraf, L, Pascual, C, Durán, A, Willems, H X, M Van Bommel, Büttgenbach, L, Costa, L

“…The structural, electrical and optical properties of single sol-gel derived antimony-doped tin oxide (ATO) films sintered at 550°C have been measured. The…”
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