TUPLER, Rossella
TUPLER, Rossella
Dipartimento di Scienze Biomediche, Metaboliche e Neuroscienze
225th ENMC international workshop:: A global FSHD registry framework, 18â20 November 2016, Heemskerk, The Netherlands
2017-01-01 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
A 5-year clinical follow-up study from the Italian National Registry for FSHD
2021-01-01 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.
A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1
1992-01-01 Tupler, Rossella; P., Maraschio; A., Gerardo; R., Maineri; G., Lanzi; L., Tiepolo
A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene
1993-01-01 Tupler, Rossella; E., Rogaeva; G., Vaula; M., Mortilla; W., Leukiw; Y., Liang; R., Hancock; E., Rogaev; GEORGE HYSLOP, P. S. T.
A novel mechanism for the origin of supernumerary marker chromosomes
1996-01-01 P., Maraschio; Tupler, Rossella; E., Rossi; L., Barbierato; F., Uccellatore; M., Rocchi; O., Zuffardi; M., Fraccaro
A repressor complex binds a chromosomal repeat deleted in dystrophic muscle.
2002-01-01 Gabellini, D; Green, Mr; Tupler, Rossella
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score
2010-01-01 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
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity
1997-01-01 Tupler, Rossella; G. L., Marseglia; M., Stefanini; E., Prosperi; L. CHESSA, T. NARDO; A., Marchi; P., Maraschio
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function
2017-01-01 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
Altered gene silencing and human diseases
2006-01-01 G., Perini; Tupler, Rossella
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1).
2014-01-01 Sancisi, Valentina; Germinario, E; Esposito, A; Morini, Elisabetta; Peron, S; Moggio, M; Tomelleri, G; Danieli Betto, D; Tupler, Rossella
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the trem 2 gene
2003-01-01 Soragna, D.; Tupler, Rossella; Ratti, M. T.; Montalbetti, L.; Papi, L.; SESTINI R. . J., NEUROSURG PSICHIATRY
An analysis of Xq deletions
1996-01-01 P., Maraschio; Tupler, Rossella; L., Barbierato; E., Dainotti; D., Larizza; F., Bernardi; H., Hoeller; A., Garau; L., Tiepolo
Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases
1992-01-01 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
Balanced autosomal translocation and ovarian dysgenesis
1994-01-01 Tupler, Rossella; L., Barbierato; D., Larizza; P., Sampaolo; F., Piovella; P., Maraschio
Cerebellar dysgenesis and mental ritardation associated with a complex chromosomal rearrangement.
1999-01-01 Maserati, E; Verri, A; Seghezzi, L; Tupler, Rossella; Federico, A; Tiepolo, L; Maraschio, P.
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.
2015-01-01 Morelli, FEDERICA FRANCESCA; Heldens, Lonneke; Verbeek, Dineke; Angelini, Corrado; Cenacchi, Giovanna; Tupler, Rossella; Carra, Serena
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.
2013-01-01 Heldens, Lonneke; Morelli, FEDERICA FRANCESCA; Verbeek, Dineke; Vinet, Jonathan; Angelini, Corrado; Boelens, Wilbert; Tupler, Rossella; Carra, Serena
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.
2015-01-01 Morelli, FEDERICA FRANCESCA; Heldens, Lonneke; Verbeek, Dineke; Angelini, Corrado; Cenacchi, Giovanna; Tupler, Rossella; Carra, Serena
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry
2016-01-01 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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 225th ENMC international workshop:: A global FSHD registry framework, 18â20 November 2016, Heemskerk, The Netherlands | 1-gen-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 | |
| A 5-year clinical follow-up study from the Italian National Registry for FSHD | 1-gen-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. | |
| A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 | 1-gen-1992 | Tupler, Rossella; P., Maraschio; A., Gerardo; R., Maineri; G., Lanzi; L., Tiepolo | |
| A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene | 1-gen-1993 | Tupler, Rossella; E., Rogaeva; G., Vaula; M., Mortilla; W., Leukiw; Y., Liang; R., Hancock; E., Rogaev; GEORGE HYSLOP, P. S. T. | |
| A novel mechanism for the origin of supernumerary marker chromosomes | 1-gen-1996 | P., Maraschio; Tupler, Rossella; E., Rossi; L., Barbierato; F., Uccellatore; M., Rocchi; O., Zuffardi; M., Fraccaro | |
| A repressor complex binds a chromosomal repeat deleted in dystrophic muscle. | 1-gen-2002 | Gabellini, D; Green, Mr; Tupler, Rossella | |
| A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score | 1-gen-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 | |
| A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity | 1-gen-1997 | Tupler, Rossella; G. L., Marseglia; M., Stefanini; E., Prosperi; L. CHESSA, T. NARDO; A., Marchi; P., Maraschio | |
| Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function | 1-gen-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 | |
| Altered gene silencing and human diseases | 1-gen-2006 | G., Perini; Tupler, Rossella | |
| Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1). | 1-gen-2014 | Sancisi, Valentina; Germinario, E; Esposito, A; Morini, Elisabetta; Peron, S; Moggio, M; Tomelleri, G; Danieli Betto, D; Tupler, Rossella | |
| An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the trem 2 gene | 1-gen-2003 | Soragna, D.; Tupler, Rossella; Ratti, M. T.; Montalbetti, L.; Papi, L.; SESTINI R. . J., NEUROSURG PSICHIATRY | |
| An analysis of Xq deletions | 1-gen-1996 | P., Maraschio; Tupler, Rossella; L., Barbierato; E., Dainotti; D., Larizza; F., Bernardi; H., Hoeller; A., Garau; L., Tiepolo | |
| Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases | 1-gen-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 | |
| Balanced autosomal translocation and ovarian dysgenesis | 1-gen-1994 | Tupler, Rossella; L., Barbierato; D., Larizza; P., Sampaolo; F., Piovella; P., Maraschio | |
| Cerebellar dysgenesis and mental ritardation associated with a complex chromosomal rearrangement. | 1-gen-1999 | Maserati, E; Verri, A; Seghezzi, L; Tupler, Rossella; Federico, A; Tiepolo, L; Maraschio, P. | |
| 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. | 1-gen-2015 | Morelli, FEDERICA FRANCESCA; Heldens, Lonneke; Verbeek, Dineke; Angelini, Corrado; Cenacchi, Giovanna; Tupler, Rossella; Carra, Serena | |
| 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. | 1-gen-2013 | Heldens, Lonneke; Morelli, FEDERICA FRANCESCA; Verbeek, Dineke; Vinet, Jonathan; Angelini, Corrado; Boelens, Wilbert; Tupler, Rossella; Carra, Serena | |
| 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. | 1-gen-2015 | Morelli, FEDERICA FRANCESCA; Heldens, Lonneke; Verbeek, Dineke; Angelini, Corrado; Cenacchi, Giovanna; Tupler, Rossella; Carra, Serena | |
| Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry | 1-gen-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 |