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209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands
2015 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.
A large interstitial deletion encompassing the Amelogenin gene on the short arm of the Y chromosome
2005 Lattanzi, Wanda; Di Giacomo, Marilena C; Lenato, Gennaro; Chimienti, Guglielmina; Voglino, Gianfranco; Resta, Nicoletta; Pepe, Gabriella; Guanti, Ginevra
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy
2008 Tabolacci, Elisabetta; Pomponi, Maria Grazia; Pietrobono, Roberta; Chiurazzi, Pietro; Neri, Giovanni
Analysis of mRNA from human heart tissue and putative applications in forensic molecular pathology.
2010 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.
Animal models of spinal muscular atrophies: Towards a better understanding of pathophysiology and development of therapeutics
2001 Frugier, T; Cifuentes Diaz, C; Tiziano, Francesco Danilo; Melki, J.
Anthocyanins: the secret of Sicilian blood oranges
2010 Licciarrdello, Concetta; Russo, M. L.; Bernardi, Jamila; Butelli, E.; Chiusano, M. L.; Martin, C.; Marocco, Adriano; Reforgiato Recupero, Giuseppe
Applicazioni dell'ingegneria genetica in medicina
2007 Tiziano, Francesco Danilo; Sangiorgi, Eugenio
Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy
2014 Cherry, Jj; Kobayashi, Dt; Lynes, Mm; Naryshkin, Nn; Tiziano, Francesco Danilo; Zaworski, Pg; Rubin, Ll; Jarecki, J.
Biomarkers in rare disorders: the experience with spinal muscular atrophy
2011 Tiziano, Francesco Danilo; Neri, Giovanni; Brahe, Cristina Beate
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study
2013 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.
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study
2013 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
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
2012 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
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy
2018 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 Maria
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
2015 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.
Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma
2020 Maturo, M. G.; Rachakonda, S.; Heidenreich, B.; Pellegrini, C.; Srinivas, N.; Requena, C.; Serra-Guillen, C.; Llombart, B.; Sanmartin, O.; Guillen, C.; Di Nardo, Lucia; Peris, Ketty; Fargnoli, Maria Concetta; Nagore, E.; Kumar, R.
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders
2014 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.
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions
2014 Lattante, Serena; Le Ber, I; Galimberti, D; Serpente, M; Rivaud Péchoux, S; Camuzat, A; Clot, F; Fenoglio, C; Scarpini, E; Brice, A; Kabashi, E.
Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy
2001 Cifuentes Diaz, C; Frugier, T; Tiziano, Francesco Danilo; Lacene, E; Roblot, N; Joshi, V; Moreau, M; Melki, J.
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family
1996 Zappata, S; Tiziano, Francesco Danilo; Neri, Giovanni; Brahe, Cristina Beate
Detection of the survival motor neuron (SMN) genes by FISH: Further evidence for a role for SMN2 in the modulation of disease severity in SMA patients
1999 Vitali, Tiziana; Sossi, V; Tiziano, Francesco Danilo; Zappata, S; Giuli, A; Paravatou Petsotas, M; Neri, Giovanni; Brahe, Cristina Beate
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-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 Maria | |
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, Lucia; Peris, Ketty; Fargnoli, Maria Concetta; 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 | |
1-gen-1999 | Detection of the survival motor neuron (SMN) genes by FISH: Further evidence for a role for SMN2 in the modulation of disease severity in SMA patients | Vitali, Tiziana; Sossi, V; Tiziano, Francesco Danilo; Zappata, S; Giuli, A; Paravatou Petsotas, M; Neri, Giovanni; Brahe, Cristina Beate |
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