Marangi, Giuseppe
Dettaglio
Marangi, Giuseppe
ROMA - Dipartimento di Scienze della vita e sanità pubblica
Pubblicazioni
Risultati 1 - 16 di 16 (tempo di esecuzione: 0.0 secondi).
Data di pubblicazione | Titolo | Autore(i) | File | |
---|---|---|---|---|
1 | 2007 | Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 | Zollino, Marcella; Lecce, Rosetta; Murdolo, Marina; Orteschi, Daniela; Marangi, Giuseppe; Selicorni, A.; Midro, A.; Sorge, G.; Zampino, Giuseppe; Memo, L.; Battaglia, Domenica Immacolata; Petersen, M.; Pandelia, E.; Gyftodymou, Y.; Faravelli, F.; Tenconi, R.; Garavelli, L.; Mazzanti, L.; Fischetto, R.; Cavalli, P.; Savasta, S.; Rodriguez, L.; Neri, Giovanni | - |
2 | 2010 | A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus | Neri, Giovanni; Zollino, Marcella; Orteschi, Daniela; Marangi, Giuseppe; De Crescenzo, V.; Pecile, V.; Riccio, A. | - |
3 | 2012 | Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease | Lattante, Serena; Conte, Amelia; Zollino, Marcella; Luigetti, Marco; Del Grande, Alessandra; Marangi, Giuseppe; Romano, Alberto; Marcaccio, A; Meleo, Emiliana; Bisogni, Giulia; Rossini, Paolo Maria; Sabatelli, Mario | - |
4 | 2012 | Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. | Marangi, Giuseppe; Orteschi, Daniela; Vigevano, F; Felie, J; Walsh, Ca; Manzini, Mc; Neri, Giovanni | - |
5 | 2004 | A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome | Zollino, Marcella; Lecce, Rosetta; Selicorni, A; Murdolo, Marina; Mancuso, Irene; Marangi, Giuseppe; Zampino, Giuseppe; Garavelli, L; Ferrarini, A; Rocchi, Massimiliano; Opitz, Jm; Neri, Giovanni | - |
6 | 2013 | Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis | Sabatelli, Mario; Moncada, A; Conte, Amelia; Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Del Grande, Alessandra; Bisogni, Giulia; Doronzio, Pn; Rossini, Paolo Maria; Zollino, Marcella | - |
7 | 2014 | Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder | Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata | - |
8 | 2015 | A Genome-wide Association Study of Myasthenia Gravis | Renton, Ae; Pliner, Ha; Provenzano, Carlo; Evoli, Amelia; Ricciardi, R; Nalls, Ma; Marangi, Giuseppe; Abramzon, Y; Arepalli, S; Chong, S; Hernandez, Dg; Johnson, Jo; Bartoccioni, Emanuela; Scuderi, Flavia; Maestri, M; Gibbs, Jr; Errichiello, E; Chiò, A; Restagno, G; Sabatelli, Mario; Macek, M; Scholz, Sw; Corse, A; Chaudhry, V; Benatar, M; Barohn, Rj; Mcvey, A; Pasnoor, M; Dimachkie, Mm; Rowin, J; Kissel, J; Freimer, M; Kaminski, Hj; Sanders, Db; Lipscomb, B; Massey, Jm; Chopra, M; Howard, Jf; Koopman, Wj; Nicolle, Mw; Pascuzzi, Rm; Pestronk, A; Wulf, C; Florence, J; Blackmore, D; Soloway, A; Siddiqi, Z; Muppidi, S; Wolfe, G; Richman, D; Mezei, Mm; Jiwa, T; Oger, J; Drachman, Db; Traynor, Bj | - |
9 | 2015 | ATXN2 polyQ intermediate repeats are a modifier of ALS survival | Chiò, A; Calvo, A; Moglia, C; Canosa, A; Brunetti, M; Barberis, M; Restagno, G; Conte, Amelia; Bisogni, Giulia; Marangi, Giuseppe; Moncada, Alice; Lattante, Serena; Zollino, Marcella; Sabatelli, Mario; Bagarotti, A; Corrado, L; Mora, G; Bersano, E; Mazzini, L; D'Alfonso, S. | - |
10 | 2015 | ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry | Borghero, G; Pugliatti, M; Marrosu, F; Marrosu, Mg; Murru, Mr; Floris, G; Cannas, A; Parish, Ld; Cau, Tb; Loi, D; Ticca, A; Traccis, S; Manera, U; Canosa, A; Moglia, C; Calvo, A; Barberis, M; Brunetti, M; Renton, Ae; Nalls, Ma; Traynor, Bj; Restagno, G; Chiò, A; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe | - |
11 | 2015 | CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients | Chiò, A; Mora, G; Sabatelli, Mario; Caponnetto, C; Traynor, Bj; Johnson, Jo; Nalls, Ma; Calvo, A; Moglia, C; Borghero, G; Monsurrò, Mr; La Bella, V; Volanti, P; Simone, I; Salvi, F; Logullo, Fo; Nilo, R; Battistini, S; Mandrioli, J; Tanel, R; Murru, Mr; Mandich, P; Zollino, Marcella; Conforti, Fl; Brunetti, M; Barberis, M; Restagno, G; Penco, S; Lunetta, C; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe | - |
12 | 2015 | HFE p.H63D polymorphism does not influence ALS phenotype and survival | Chiò, A; Mora, G; Sabatelli, Mario; Caponnetto, C; Lunetta, C; Traynor, Bj; Johnson, Jo; Nalls, Ma; Calvo, A; Moglia, C; Borghero, G; Monsurrò, Mr; La Bella, V; Volanti, P; Simone, I; Salvi, F; Logullo, Fo; Nilo, R; Giannini, F; Mandrioli, J; Tanel, R; Murru, Mr; Mandich, P; Zollino, Marcella; Conforti, Fl; Penco, S; Brunetti, M; Barberis, M; Restagno, G; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe | - |
13 | 2014 | Genetic counselling in ALS: facts, uncertainties and clinical suggestions | Chiò, A; Battistini, S; Calvo, A; Caponnetto, C; Conforti, Fl; Corbo, M; Giannini, F; Mandrioli, J; Mora, G; Sabatelli, Mario; Ajmone, C; Mastro, E; Pain, D; Mandich, P; Penco, S; Restagno, G; Zollino, Marcella; Surbone, A; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe | - |
14 | 2015 | Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations | Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Del Grande, Alessandra; Marangi, Giuseppe; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Piacentini, Roberto; Bisogni, Giulia; Lattante, Serena; Luigetti, Marco; Rossini, Paolo Maria; Moncada, Alice | - |
15 | 2016 | Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes | Urreizti, R; Roca Ayats, N; Trepat, J; Garcia Garcia, F; Aleman, A; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; Opitz, Jm; Dopazo, J; Cormand, B; Vilageliu, L; Balcells, S; Grinberg, D. | - |
16 | 2011 | Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome | Neri, Giovanni; Zollino, Marcella; Gurrieri, Fiorella; Orteschi, Daniela; Marangi, Giuseppe | - |