Search Results - "Galluzzi, G"

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample by Mostacciuolo, ML, Pastorello, E, Vazza, G, Miorin, M, Angelini, C, Tomelleri, G, Galluzzi, G, Trevisan, CP

“…Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease associated with a partial deletion on chromosome 4q35. Few relevant…”
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Phenotypic clustering of lamin A/C mutations in neuromuscular patients by BENEDETTI, S, MENDITTO, I, MORANDI, L, MORONI, I, GALLUZZI, G, BERTINI, E, TOSCANO, A, OLIVE, M, BONNE, G, MARI, F, CALDARA, R, FAZIO, R, DEGANO, M, MAMMI, I, CARRERA, P, TONIOLO, D, COMI, G, QUATTRINI, A, FERRARI, M, PREVITALI, S. C, RODOLICO, C, MERLINI, L, D'AMICO, A, PALMUCCI, L, BERARDINELLI, A, PEGORARO, E, TREVISAN, C. P

“…Mutations in the LMNA gene, encoding human lamin A/C, have been associated with an increasing number of disorders often involving skeletal and cardiac muscle,…”
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Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype by Ricci, E., Galluzzi, G., Deidda, G., Cacurri, S., Colantoni, L., Merico, B., Piazzo, N., Servidei, S., Vigneti, E., Pasceri, V., Silvestri, G., Mirabella, M., Mangiola, F., Tonali, P., Felicetti, L.

“…Genotype analysis by using the p13E‐11 probe and other 4q35 polymorphic markers was performed in 122 Italian facioscapulohumeral muscular dystrophy families…”
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Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes by Vytopil, M, Benedetti, S, Ricci, E, Galluzzi, G, Dello Russo, A, Merlini, L, Boriani, G, Gallina, M, Morandi, L, Politano, L, Moggio, M, Chiveri, L, Hausmanova-Petrusewicz, I, Ricotti, R, Vohanka, S, Toman, J, Toniolo, D

“…No genotype-phenotype correlation could be made. [...]our study indicates that mutation spanning few amino acids of evolutionary highly conserved regions…”
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Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15 by Martínez Murillo, F, Kobayashi, H, Pegoraro, E, Galluzzi, G, Creel, G, Mariani, C, Farina, E, Ricci, E, Alfonso, G, Pauli, R M, Hoffman, E P

“…To characterize a new gene locus for familial spastic paraparesis (FSP). FSP is a genetically heterogeneous group of upper motor neuron syndromes. It can be…”
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The treatment of land use, land use change and forestry in the post-2012 climate agreement: a perspective from non-Annex I Parties by Federici, S, Galluzzi, G

“…Given the greater vulnerability of developing countries to climate change, their paramount interest is to establish effective mitigation policies including the…”
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P2.40 Double trouble: Resulting phenotype in a young patient with facio-scapulo-humeral dystrophy and Williams–Beuren syndrome by Passamano, L, Cecio, M.R, Picillo, E, D’Avanzo, G, Galluzzi, G, Politano, L

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P2.38 Lower limb muscle MRI in a large cohort of FSHD patients by Tasca, G, Monforte, M, Iannaccone, E, Frusciante, R, Laschena, F, Ottaviani, P, Di Lella, G.M, Galluzzi, G, Tiziano, F.D, Broccolini, A, Masciullo, M, Silvestri, G, Ricci, E

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G.P.7.01 Combinatorial DHPLC analyses to identify point mutations in the dystrophin gene in 144 DMD/BMD patients by Trimarco, A, Torella, A, Cuomo, A, Bassi, M.T, Fanin, M, Galluzzi, G, Minetti, C, Politano, L, Nigro, V

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Sequence Homology between 4qter and 10qter Loci Facilitates the Instability of Subtelomeric KpnI Repeat Units Implicated in Facioscapulohumeral Muscular Dystrophy by Cacurri, S., Piazzo, N., Deidda, G., Vigneti, E., Galluzzi, G., Colantoni, L., Merico, B., Ricci, E., Felicetti, L.

“…Physical mapping and in situ hybridization experiments have shown that a duplicated locus with a structural organization similar to that of the 4q35 locus…”
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G.P.15.09 Unexpected high percentage of asymptomatic subjects carrying the FSHD molecular defect: Which factors contribute to the disease mechanism? by Bonifazi, E, Lamperti, C, Fiorillo, C, Vercelli, L, Borsato, C, Frusciante, R, Servida, M, Greco, F, Frambolli, I, Colantoni, L, Ricci, G, Volpi, L, Di Leo, R, Manzoli, C, Cudia, P, Pastorello, E, Ricciardi, L, Govi, M, Scionti, I, Cao, M, Siciliano, G, Galluzzi, G, Morandi, L, Di Muzio, A, Trevisan, C.P, Ricci, E, Rodolico, C, Santoro, L, Tomelleri, G, Angelini, C, Palmucci, L, Moggio, M, Tupler, R.G

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G.P.3.07 Intronic conserved non-coding sequences (CNSs) as a tool to detect non-coding RNAs (ncRNAs) and putative regulatory motifs within the dystrophin gene by Spitali, P, Fabris, M, Bovolenta, M, Martoni, E, Trabanelli, C, Galluzzi, G, Angelini, C, Gualandi, F, Rimessi, P, Ferlini, A

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D.P.1.02 A robust tool to quantify disability in patients affected by facioscapulohumeral muscular dystrophy by Lamperti, C, Fabbri, G, Greco, F, Servida, M, Vercelli, L, Fiorillo, C, Borsato, C, Cao, M, Cudia, P, Frusciante, R, Leo, R. Di, Volpi, L, d’Amico, R, Pastorello, E, Ricciardi, L, Galluzzi, G, Siciliano, G, Muzio, A, D’Angelo, G, Rodolico, C, Morandi, L, Tomelleri, G, Trevisan, C, Angelini, C, Santoro, L, Ricci, E, Palmucci, L, Moggio, M, Tupler, R.G

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Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement by Uncini, A., Galluzzi, G., Di Muzio, A., De Angelis, M.V., Ricci, E., Scoppetta, C., Servidei, S.

“…Facioscapulohumeral muscular dystrophy has a distinctive regional distribution but variable clinical expression and may be markedly asymmetrical. We report two…”
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Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy by MIRABELLA, M, GALLUZZI, G, MANFREDI, G, BERTINI, E, RICCI, E, DE LEO, R, TONALI, P, SERVIDEI, S

“…We report a patient with a large intragenic dystrophin deletion of exons 17-51 inclusive associated with congenital cataract and mild Becker muscular…”
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Molecular analysis of 4q35 rearrangements in facioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease by Galluzzi, G, Deidda, G, Cacurri, S, Colantoni, L, Piazzo, N, Vigneti, E, Ricci, E, Servidei, S, Merico, B, Pachı̀, A, Brambati, B, Mangiola, F, Tonali, P, Felicetti, L

“…In the majority of facioscapulohumeral muscular dystrophy (FSHD) families (about 95%) the genetic defect has been identified as a deletion of a variable number…”
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CONTRIBUTION OF BACKYARD GARDENS TO CONSERVATION OF BIOLOGICAL AND CULTURAL DIVERSITY AND TO HUMAN WELL-BEING by Galluzzi, G., Negri, V.

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Contribution of backyard gardens to conservation of biological and cultural diversity and to human well-being by Galluzzi, G, Negri, V

“…Backyard or home gardens characterized by structural complexity and multifunctionality, have been recognized as potential repositories of biological diversity…”
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Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number ofKpnI repeats at the 4q35 locus and clinical phenotype by Ricci, E., Galluzzi, G., Deidda, G., Cacurri, S., Colantoni, L., Merico, B., Piazzo, N., Servidei, S., Vigneti, E., Pasceri, V., Silvestri, G., Mirabella, M., Mangiola, F., Tonali, P., Felicetti, L.

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Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy by Raffaele di Barletta, Marina, Ricci, Enzo, Galluzzi, Giuliana, Tonali, Pietro, Mora, Marina, Morandi, Lucia, Romorini, Alessandro, Voit, Thomas, Orstavik, Karen Helene, Merlini, Luciano, Trevisan, Carlo, Biancalana, Valerie, Housmanowa-Petrusewicz, Irena, Bione, Silvia, Ricotti, Roberta, Schwartz, Ketty, Bonne, Giselle, Toniolo, Daniela

“…Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-onset contractures, progressive weakness in humeroperoneal…”
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