TUPLER, Rossella

TUPLER, Rossella  

Dipartimento di Scienze Biomediche, Metaboliche e Neuroscienze  

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Titolo Data di pubblicazione Autore(i) File
225th ENMC international workshop:: A global FSHD registry framework, 18–20 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