ItalianoTUPLER, Rossella
Dettaglio
TUPLER, Rossella
Dipartimento di Scienze Biomediche, Metaboliche e Neuroscienze
Pubblicazioni
Risultati 1 - 20 di 86 (tempo di esecuzione: 0.0 secondi).
| Titolo | Data di pubblicazione | Autore(i) | |
|---|---|---|---|
| 1 | 225th ENMC international workshop:: A global FSHD registry framework, 18â20 November 2016, Heemskerk, The Netherlands | 2017 | Mul, Karlien; Kinoshita, June; Dawkins, Hugh; Van Engelen, Baziel; Tupler, Rossella; Ferreira, Verã²nica Alonso; Attarian, Sharam; Berardinelli, Angela; Bogard, Betsy; Evangelista, Teresinha; Van Der Graaf, Kees; Heatwole, Chad; Van Der Maarel, Silvãre; Mah, Jean; Van Rens, Jacqui; Richiardi, Armelle; Roxburgh, Richard; Sacconi, Sabrina; Tawil, Rabi; Van Der Meij-kim, Diana; Voet, Nicole; Vohã¡nka, Stanislav |
| 2 | A 5-year clinical follow-up study from the Italian National Registry for FSHD | 2021 | Vercelli, L.; Mele, F.; Ruggiero, L.; Sera, F.; Tripodi, S.; Ricci, G.; Vallarola, A.; Villa, L.; Govi, M.; Maranda, L.; Di Muzio, A.; Scarlato, M.; Bucci, E.; Maggi, L.; Rodolico, C.; Moggio, M.; Filosto, M.; Antonini, G.; Previtali, S.; Angelini, C.; Berardinelli, A.; Pegoraro, E.; Siciliano, G.; Tomelleri, G.; Santoro, L.; Mongini, T.; Tupler, R. |
| 3 | A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 | 1992 | Tupler, Rossella; P., Maraschio; A., Gerardo; R., Maineri; G., Lanzi; L., Tiepolo |
| 4 | A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene | 1993 | Tupler, Rossella; E., Rogaeva; G., Vaula; M., Mortilla; W., Leukiw; Y., Liang; R., Hancock; E., Rogaev; GEORGE HYSLOP, P. S. T. |
| 5 | A novel mechanism for the origin of supernumerary marker chromosomes | 1996 | P., Maraschio; Tupler, Rossella; E., Rossi; L., Barbierato; F., Uccellatore; M., Rocchi; O., Zuffardi; M., Fraccaro |
| 6 | A repressor complex binds a chromosomal repeat deleted in dystrophic muscle. | 2002 | Gabellini, D; Green, Mr; Tupler, Rossella |
| 7 | A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score | 2010 | Costanza, Lamperti; Greta, Fabbri; Liliana, Vercelli; D'Amico, Roberto; Roberto, Frusciante; Bonifazi, Emanuela; Chiara, Fiorillo; Carlo, Borsato; Michelangelo, Cao; Maura, Servida; Greco, Francesca; Rita Di, Leo; Leda, Volpi; Claudia, Manzoli; Paola, Cudia; Ebe, Pastorello; Leopoldo, Ricciardi; Gabriele, Siciliano; Giuliana, Galluzzi; Carmelo, Rodolico; Lucio, Santoro; Giuliano, Tomelleri; Corrado, Angelini; Enzo, Ricci; Laura, Palmucci; Maurizio, Moggio; Tupler, Rossella |
| 8 | A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity | 1997 | Tupler, Rossella; G. L., Marseglia; M., Stefanini; E., Prosperi; L. CHESSA, T. NARDO; A., Marchi; P., Maraschio |
| 9 | Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function | 2017 | Morelli F., F.; Verbeek D., S.; Bertacchini, Jessika; Vinet, Jonathan; Mediani, Laura; Marmiroli, Sandra; Cenacchi, G.; Nasi, Milena; De Biasi, Sara; Brunsting J., F.; Lammerding, J.; Pegoraro, E.; Angelini, C.; Tupler, Rossella; Alberti, S.; Carra, Serena |
| 10 | Altered gene silencing and human diseases | 2006 | G., Perini; Tupler, Rossella |
| 11 | Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1). | 2014 | Sancisi, Valentina; Germinario, E; Esposito, A; Morini, Elisabetta; Peron, S; Moggio, M; Tomelleri, G; Danieli Betto, D; Tupler, Rossella |
| 12 | An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the trem 2 gene | 2003 | Soragna, D.; Tupler, Rossella; Ratti, M. T.; Montalbetti, L.; Papi, L.; SESTINI R. . J., NEUROSURG PSICHIATRY |
| 13 | An analysis of Xq deletions | 1996 | P., Maraschio; Tupler, Rossella; L., Barbierato; E., Dainotti; D., Larizza; F., Bernardi; H., Hoeller; A., Garau; L., Tiepolo |
| 14 | Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases | 1992 | R. E., Tanzi; G., Vaula; D. M., Romano; M., Mortilla; T. L., Huang; Tupler, Rossella; W., Wasco; B. T., Hyman; J. L., Haines; B. J., Jenkins; M., Kalaitsidaki; A. C., Warren; M. C., Mcinnis; S. E., Antonarakis; H., Karlinsky; M. E., Percy; L., Connor; J., Growdon; D. R., Crapper McIachlan; J. F., Gusella; P. H., St George Hyslop |
| 15 | Balanced autosomal translocation and ovarian dysgenesis | 1994 | Tupler, Rossella; L., Barbierato; D., Larizza; P., Sampaolo; F., Piovella; P., Maraschio |
| 16 | Cerebellar dysgenesis and mental ritardation associated with a complex chromosomal rearrangement. | 1999 | Maserati, E; Verri, A; Seghezzi, L; Tupler, Rossella; Federico, A; Tiepolo, L; Maraschio, P. |
| 17 | Characterization of the R7S mutation of Heat Shock Protein HSPB3 and of two novel mutations found in patients suffering of myopathy: understanding the mechanisms leading to disease. | 2013 | Heldens, Lonneke; Morelli, FEDERICA FRANCESCA; Verbeek, Dineke; Vinet, Jonathan; Angelini, Corrado; Boelens, Wilbert; Tupler, Rossella; Carra, Serena |
| 18 | Characterization of the R7S mutation of Heat Shock Protein HSPB3 and of two novel mutations found in patients suffering of myopathy: understanding the mechanisms leading to disease. | 2015 | Morelli, FEDERICA FRANCESCA; Heldens, Lonneke; Verbeek, Dineke; Angelini, Corrado; Cenacchi, Giovanna; Tupler, Rossella; Carra, Serena |
| 19 | CHARACTERIZATION OF THE R7S MUTATION OF HEAT SHOCK PROTEIN HSPB3 AND TWO NOVEL MUTATIONS FOUND IN PATIENTS SUFFERING OF MYOPATHY: UNDERSTANDING THE MECHANISMS LEADING TO DISEASE. | 2015 | Morelli, FEDERICA FRANCESCA; Heldens, Lonneke; Verbeek, Dineke; Angelini, Corrado; Cenacchi, Giovanna; Tupler, Rossella; Carra, Serena |
| 20 | Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry | 2016 | Nikolic, Ana; Ricci, Giulia; Sera, Francesco; Bucci, Elisabetta; Govi, Monica; Mele, Fabiano; Rossi, Marta; Ruggiero, Lucia; Vercelli, Liliana; Ravaglia, Sabrina; Brisca, Giacomo; Fiorillo, Chiara; Villa, Luisa; Maggi, Lorenzo; Cao, Michelangelo; D'Amico, Maria Chiara; Siciliano, Gabriele; Antonini, Giovanni; Santoro, Lucio; Mongini, Tiziana; Moggio, Maurizio; Morandi, Lucia; Pegoraro, Elena; Angelini, Corrado; Di Muzio, Antonio; Rodolico, Carmelo; Tomelleri, Giuliano; Grazia D'Angelo, Maria; Bruno, Claudio; Berardinelli, Angela; Tupler, Rossella |
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