Sfoglia per ???browse.type.metadata.subjectErc2011???  LS2_6 - Molecular genetics, reverse genetics and RNAi

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Data di pubblicazione Titolo Autore(i) File
1-gen-2015 209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands Finkel, R; Bertini, Enrico Silvio; Muntoni, F; Mercuri, Eugenio Maria; Chen, K; Kirschner, J; De Lemus, M; Hogrel, Jy; Khwaja, O; Main, M; Mazzone, E; Montes, J; Ramsey, D; Sejersen, T; Sumner, C; Swoboda, K; Tiziano, Francesco Danilo; Tseng, B; Van Der Pol, L; Villerot, C; Wirth, B; Witchen, A; Yeh, Ws; Zittersteijn, A.
1-gen-2008 A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the Attention Deficit Hyperactivity Disorder in Fragile X Syndrome boys Neri, Giovanni; Tabolacci, Elisabetta; Chiurazzi, Pietro
1-gen-2005 A large interstitial deletion encompassing the Amelogenin gene on the short arm of the Y chromosome Lattanzi, Wanda; Di Giacomo, Marilena C; Lenato, Gennaro; Chimienti, Guglielmina; Voglino, Gianfranco; Resta, Nicoletta; Pepe, Gabriella; Guanti, Ginevra
1-gen-2008 A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy Tabolacci, Elisabetta; Pomponi, Maria Grazia; Pietrobono, Roberta; Chiurazzi, Pietro; Neri, Giovanni
1-gen-2010 Analysis of mRNA from human heart tissue and putative applications in forensic molecular pathology. Partemi, Sara; Berne, Pm; Battle, M; Berruezo, A; Mont, L; Riuró, H; Ortiz, Jt; Roig, E; Pascali, Vincenzo Lorenzo; Brugada, Ramon; Brugada, R; Oliva, Antonio; Brugada, J.
1-gen-2001 Animal models of spinal muscular atrophies: Towards a better understanding of pathophysiology and development of therapeutics Frugier, T; Cifuentes Diaz, C; Tiziano, Francesco Danilo; Melki, J.
1-gen-2010 Anthocyanins: the secret of Sicilian blood oranges Licciarrdello, Concetta; Russo, M. L.; Bernardi, Jamila; Butelli, E.; Chiusano, M. L.; Martin, C.; Marocco, Adriano; Reforgiato Recupero, Giuseppe
1-gen-2007 Applicazioni dell'ingegneria genetica in medicina Tiziano, Francesco Danilo; Sangiorgi, Eugenio
1-gen-2014 Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy Cherry, Jj; Kobayashi, Dt; Lynes, Mm; Naryshkin, Nn; Tiziano, Francesco Danilo; Zaworski, Pg; Rubin, Ll; Jarecki, J.
1-gen-2011 Biomarkers in rare disorders: the experience with spinal muscular atrophy Tiziano, Francesco Danilo; Neri, Giovanni; Brahe, Cristina Beate
1-gen-2013 Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study Resta, N; Pierannunzio, D; Lenato, Gm; Stella, A; Capocaccia, R; Bagnulo, R; Lastella, P; Susca, Fc; Bozzao, C; Loconte, Dc; Sabbà, C; Urso, E; Sala, P; Fornasarig, M; Grammatico, P; Piepoli, A; Host, C; Turchetti, D; Viel, A; Memo, L; Giunti, L; Stigliano, V; Varesco, L; Bertario, L; Genuardi, Maurizio; Lucci Cordisco, Emanuela; Tibiletti, Mg; Di Gregorio, C; Andriulli, A; Ponz De Leon, M.
1-gen-2013 Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study Tiziano, Francesco Danilo; Lomastro, Rosa; Di Pietro, Lorena; Pasanisi, Maria Barbara; Fiori, Stefania; Angelozzi, Carla; Abiusi, Emanuela; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Vasco, Gessica; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Politano, Luisa; Passamano, Luigia; Di Gregorio, Grazia; Montomoli, Cristina; Orsi, Chiara; Campanella, Angela; Mantegazza, Renato; Morandi, Lucia
1-gen-2012 Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study Running title: adult SMA biomarker study Tiziano, Francesco Danilo; Lomastro, Rosa; Di Pietro, Lorena; Pasanisi, Maria Barbara; Fiori, Stefania; Angelozzi, Carla; Abiusi, Emanuela; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Vasco, Gessica; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Politano, Luisa; Passamano, Luigia; Di Gregorio, Grazia; Montomoli, Cristina; Orsi, Chiara; Campanella, Angela; Mantegazza, Renato; Morandi, Lucia
1-gen-2018 Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy De Sanctis, Roberto; Pane, Marika; Coratti, Giorgia; Palermo, Concetta; Leone, Daniela; Pera, Maria Carmela; Abiusi, Emanuela; Fiori, Stefania; Forcina, Nicola; Fanelli, Lavinia; Lucibello, Simona; Mazzone, Elena S.; Tiziano, Francesco Danilo; Mercuri, Eugenio
1-gen-2015 Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. Gurrieri, Fiorella; Panagiotakaki, E; De Grandis, E; Stagnaro, M; Heinzen, El; Fons, C; Sisodiya, S; Tiziano, Francesco Danilo; Nicole, ; Nevsimalova, S; Neville, B; Van Den Maagdenberg, Am; Mikati, M; Goldstein, D.
1-gen-2020 Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma Maturo, M. G.; Rachakonda, S.; Heidenreich, B.; Pellegrini, C.; Srinivas, N.; Requena, C.; Serra-Guillen, C.; Llombart, B.; Sanmartin, O.; Guillen, C.; Di Nardo, L.; Peris, K.; Fargnoli, M. C.; Nagore, E.; Kumar, R.
1-gen-2014 Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders Lattante, Serena; Millecamps, S; Stevanin, G; Rivaud Péchoux, S; Moigneu, C; Camuzat, A; Da Barroca, S; Mundwiller, E; Couarch, P; Salachas, F; Hannequin, D; Meininger, V; Pasquier, F; Seilhean, D; Couratier, P; Danel Brunaud, V; Bonnet, A; Tranchant, C; Leguern, E; Brice, A; Le Ber, I; Kabashi, E.
1-gen-2014 Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions Lattante, Serena; Le Ber, I; Galimberti, D; Serpente, M; Rivaud Péchoux, S; Camuzat, A; Clot, F; Fenoglio, C; Scarpini, E; Brice, A; Kabashi, E.
1-gen-2001 Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy Cifuentes Diaz, C; Frugier, T; Tiziano, Francesco Danilo; Lacene, E; Roblot, N; Joshi, V; Moreau, M; Melki, J.
1-gen-1996 Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family Zappata, S; Tiziano, Francesco Danilo; Neri, Giovanni; Brahe, Cristina Beate
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