EnglishTUPLER, Rossella
Risultati 1 - 20 di 69 (tempo di esecuzione: 0.0 secondi).
| 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 | S. T. 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; Tupler, Rossella; 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 |
Nome completo:
TUPLER, Rossella
Varianti:
R. G. Tupler
Copyright © 2019