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Data di pubblicazione Titolo Autore(i) File
1-gen-2010 Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design Tiziano, Francesco Danilo; Lomastro, Rosa; Pinto, Anna Maria; Messina, S; D'Amico, A; Fiori, S; Angelozzi, Carla; Pane, Marika; Mercuri, Eugenio Maria; Bertini, E; Neri, Giovanni; Brahe, Cristina Beate
1-gen-2010 Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. Tiziano, Francesco Danilo; Lomastro, Rosa; Pinto, Anna Maria; Messina, Sonia; D'Amico, Adele; Fiori, Stefania; Angelozzi, Carla; Pane, Marika; Mercuri, Eugenio Maria; Bertini, Enrico; Neri, Giovanni; Brahe, Cristina Beate
1-gen-2010 SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Tiziano, Francesco Danilo; Pinto, Anna Maria; Fiori, Stefania; Lomastro, Rosa; Messina, Sonia; Bruno, Claudio; Pini, Antonella; Pane, Marika; D'Amico, Adele; Ghezzo, Alessandro; Bertini, Enrico; Mercuri, Eugenio Maria; Neri, Giovanni; Brahe, Cristina Beate
1-gen-2009 Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia. Chassaing, N; Golzio, C; Odent, S; Lequeux, L; Vigouroux, A; Martinovic Bouriel, L; Tiziano, Francesco Danilo; Masini, Lucia; Piro, F; Maragliano, G; Delezoide, Al; Attié Bitach, T; Manouvrier Hanu, S; Etchevers, Hc; Calvas, P.
1-gen-2009 The complex interaction between APOE promoter and AD: an Italian case-control study Bizzarro, Alessandra; Seripa, D; Acciarri, Adele; Matera, Mg; Pilotto, A; Tiziano, Francesco Danilo; Brahe, Cristina Beate; Masullo, Carlo
1-gen-2008 Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells Angelozzi, Carla; Borgo, Federica; Tiziano, Francesco Danilo; Martella, Andrea; Neri, Giovanni; Brahe, Cristina Beate
1-gen-2007 The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study Tiziano, Francesco Danilo; Bertini, Enrico Silvio; Messina, S.; Angelozzi, C.; Pane, Marika; D'Amico, A.; Alfieri, P.; Fiori, Simona; Battini, Roberta; Berardinelli, A.; Boffi, P.; Bruno, C.; Cini, C.; Minetti, C.; Mongini, T.; Morandi, L.; Orcesi, S.; Pelliccioni, M.; Pini, A.; Villanova, M.; Vita, G.; Locatelli, M.; Mercuri, Eugenio Maria; Brahe, C.
1-gen-2007 Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Mercuri, Eugenio Maria; Angelozzi, Carla; Neri, Giovanni; Tiziano, Francesco Danilo; Brahe, Cristina Beate
1-gen-2007 Refined characterization of the expression and stability of the SMN gene products Vitte, J; Fassier, C; Tiziano, Francesco Danilo; Dalard, C; Soave, S; Roblot, N; Brahe, Cristina Beate; Saugier Veber, P; Bonnefont, Jp; Melki, J.
1-gen-2007 Applicazioni dell'ingegneria genetica in medicina Tiziano, Francesco Danilo; Sangiorgi, Eugenio
1-gen-2006 Apoe epsilon2-epsilon4 genotype is a possible risk factor for prymary progressive aphasia Acciarri, Adele; Masullo, Carlo; Bizzarro, Alessandra; Valenza, Alessandro; Quaranta, Davide; Marra, Camillo; Tiziano, Francesco Danilo; Brahe, Cristina Beate; Seripa, Davide; Matera, Mg; Fazio, Vd; Gainotti, Guido; Daniele, Antonio
1-gen-2006 APOE ε2-ε4 genotype is a possible risk factor for primary progressive aphasia [6] Acciarri, A.; Masullo, Carlo; Bizzarro, Alessandra; Valenza, Alessandro; Quaranta, Davide; Marra, Camillo; Tiziano, Francesco Danilo; Brahe, C.; Seripa, D.; Matera, M. G.; Fazio, Vito Michele; Gainotti, Guido; Daniele, Antonio
1-gen-2005 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Bertini, Enrico Silvio; Burghes, A; Bushby, K; Estournet Mathiaud, B; Finkel, Rs; Hughes, Ra; Iannaccone, St; Melki, J; Mercuri, Eugenio Maria; Muntoni, F; Voit, T; Reitter, B; Swoboda, Kj; Tiziano, Francesco Danilo; Tizzano, E; Topaloglu, H; Wirth, B; Zerres, K.
1-gen-2004 A history of mental retardation Neri, Giovanni; Tiziano, Francesco Danilo
1-gen-2004 Allelic distribution of apolipoprotein E (ApoE) and ApoE promoter polymorphisms in patients with frontotemporal dementia. Acciarri, Adele; Bizzarro, Alessandra; Valenza, Alessandro; Misciagna, Sandro; Quaranta, Domenico; Marra, Camillo; Seripa, D; Tiziano, Francesco Danilo; Brahe, Cristina Beate; Fazio, Vito Michele; Daniele, Antonio; Gainotti, Guido; Masullo, Carlo
1-gen-2004 Analysis of allelic distribution of ApoE promoter polymorphism: relation to gender, age at onset, and var epsilon epsilon 4 in a sample of sporardic AD patients. Bizzarro, Alessandra; Acciarri, Adele; Valenza, Alessandro; Tiziano, Francesco Danilo; Angelozzi, Carla; Brahe, Cristina Beate; Rinaldi, M; Misciagna, Sandro; Seripa, D; Fazio, Vito Michele; Daniele, Antonio; Marra, Camillo; Masullo, Carlo
1-gen-2004 Apolipoprotein E ε4 allele differently affects the patterns of neuropsychological presentation in early- and late-onset Alzheimer's disease patients Marra, Camillo; Bizzarro, Alessandra; Daniele, Antonio; De Luca, L.; Ferraccioli, Monica; Valenza, Alessandro; Brahe, C.; Tiziano, Francesco Danilo; Gainotti, Guido; Masullo, Carlo
1-gen-2001 Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy Cifuentes Diaz, C; Frugier, T; Tiziano, Francesco Danilo; Lacene, E; Roblot, N; Joshi, V; Moreau, M; Melki, J.
1-gen-2001 Animal models of spinal muscular atrophies: Towards a better understanding of pathophysiology and development of therapeutics Frugier, T; Cifuentes Diaz, C; Tiziano, Francesco Danilo; Melki, J.
1-gen-2001 Mouse models for Friedereich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Puccio, H; Simon, D; Cossée, M; Criqui Filipe, P; Tiziano, Francesco Danilo; Melki, J; Hindelang, C; Matyas, R; Koenig, M.
Mostrati risultati da 61 a 80 di 86
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