TUPLER, Rossella

	Titolo	Data di pubblicazione	Autore(i)
1	When Enough is Enough: Genetic Diseases Associated with Transcriptional Derepression.	2004	GABELLINI D.; M.R. GREEN ; R. TUPLER
2	Transcriptional derepression as a cause of genetic diseases	2003	GABELLINI D; R. TUPLER; GREEN MR
3	The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.	2010	Forlani G; Giarda E; Ala U; Di Cunto F; Salani M; Tupler R; Kilstrup-Nielsen C; Landsberger N.
4	The Italian FSHD registry: An enhanced data integration and analytics framework for smart health care	2017	Orsini, Mirko; Calanchi, Enrico; Magnotta, Luca; Gagliardelli, Luca; Govi, Monica; Mele, Fabiano; Tupler, Rossella
5	Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy	2007	D'Antona G; Brocca L; Pansarasa O; Rinaldi C; Tupler R; Bottinelli R.
6	Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying heterozygous CAV3 T78M mutation and D4Z4 partial deletion: further evidence for “double trouble” overlapping syndromes	2012	Ricci G; Scionti I; Alì G; Volpi L; Zampa V; Fanin M; Angelini C; Politano L; Tupler R; Siciliano G
7	Ring chromosome 9 with a 9p22.3-p24.3 duplication	1999	L., Seghezzi; P., Maraschio; M., Bozzola; E., Maserati; Tupler, Rossella; A., Marchi; L., Tiepolo
8	Response [NEUROMUSCULAR DISORDERS]	2012	Ricci, Giulia; Scionti, Isabella; Tupler, Rossella; Siciliano, Gabriele
9	Regional assignment of the loci for adenilate kinase to 9q32 and for a-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?	1989	O. Zuffardi; A. Caiulo; P. Maraschio; R. Tupler; E. Bianchi; P. Amisano; G. Beluffi; G. Moratti; G. Liguri
10	Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy	1999	Tupler, Rossella; G., Perini; M. A., Pellegrino; M. R., Green
11	Paternal origin of the denovo deleted chromosome 4 in wolf-Hirschborn syndrome	1992	R. Tupler, L. Bortotto,.; E.M. Buhler, M. Alkan, N.J. Malik, N. Bosch Al Jadooa, L. Memo, P. Maraschio
12	Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.	2008	Filosto M; Tonin P; Scarpelli M; Savio C; Greco F; Mancuso M; Vattemi G; Govoni V; Rizzuto N; Tupler R; Tomelleri G.
13	A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes	2016	Ricci, Giulia; Ruggiero, Lucia; Vercelli, Liliana; Sera, Francesco; Nikolic, Ana; Govi, Monica; Mele, Fabiano; Daolio, Jessica; Angelini, Corrado; Antonini, Giovanni; Berardinelli, Angela; Bucci, Elisabetta; Cao, Michelangelo; D’Amico, Maria Chiara; D’Angelo, Grazia; Di Muzio, Antonio; Filosto, Massimiliano; Maggi, Lorenzo; Moggio, Maurizio; Mongini, Tiziana; Morandi, Lucia; Pegoraro, Elena; Rodolico, Carmelo; Santoro, Lucio; Siciliano, Gabriele; Tomelleri, Giuliano; Villa, Luisa; Tupler, Rossella
14	A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene	1992	G., Vaula; M., Mortilla; Tupler, Rossella; W., Lukiw; R., Tanzi; L., Nee; R., Polinsky; J. F., Foncin; A. C., Bruni; M. P., Montesi; S., Sorbi; P., St George Hyslop
15	New molecular findings in congenital myopathies due to selenoprotein N gene mutations.	2011	Cagliani R; Fruguglietti ME; Berardinelli A; D'Angelo MG; Prelle A; Riva S; Gorni K; Orcesi S; Lamperti C; Pichiecchio A; Signaroldi E; Tupler R; Magri F; Govoni A; Corti S; Bresolin N; Moggio M; Comi GP.
16	Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy	1996	R. TUPLER; A. BERARDINELLI; L. BARBIERATO; R. FRANTS; J.E. HEWITT; G. LANZI; P. MARASCHIO; L. TIEPOLO
17	Molecular genetic evidence for etiologic heterogeneity of Alzheimer’s disease	1992	ST. GEORGE-HYSLOP P.H; MC LACHLAN C.D.R; HAINES J.L; BRUNI A.C; FONCIN J.F; LUKIV W.J.L; MONTESI M.P; MORTILLA M; PINESSI L; POLINSKY L.J; POLLEN D; RAINERO I; ROGAEV E; SORBI S; TANZI R; R. TUPLER; VAULA G
18	Molecular basis of facioscapulohumeral muscular dystrophy.	2004	R. TUPLER; GABELLINI D.
19	Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene	1992	H., Karlinsky; G., Vaula; J. L., Haines; J., Ridgley; C., Bergeron; M., Mortilla; Tupler, Rossella; M. E., Percy; Y., Robitaille; N. E., Noldy; T. C. K., Yip; R. E., Tanzi; J. F., Gusella; R., Becker; J. M., Berg; D. R., Crapper McLachlan; George Hyslop, P. H. S. t.
20	Molecular analysis of a Y;1 translocation in an azoospermic male	1994	P. MARASCHIO; R. TUPLER; E. DAINOTTI; M. CORTINOVIS; L. TIEPOLO