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Mostrati risultati da 1 a 16 di 16
Data di pubblicazione Titolo Autore(i) File
1-gen-2011 Biomarkers in rare disorders: the experience with spinal muscular atrophy Tiziano, Francesco Danilo; Neri, Giovanni; Brahe, Cristina Beate
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 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-2009 INCREASED LEVELS OF GLIAL CELL-DERIVED NEUROTROPHIC FACTOR IN CSF OF INFANTS WITH SMA Chiaretti, Antonio; Leoni, Chiara; Barone, Giuseppe; Genovese, Orazio; Brahe, Cristina Beate; Mariotti, Paolo; Conti, Giorgio
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 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-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-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 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-1999 SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis Patrizi, Al; Tiziano, Francesco Danilo; Zappata, S; Donati, Ma; Neri, Giovanni; Brahe, Cristina Beate
1-gen-1999 Detection of the survival motor neuron (SMN) genes by FISH: Further evidence for a role for SMN2 in the modulation of disease severity in SMA patients Vitali, Tiziana; Sossi, V; Tiziano, Francesco Danilo; Zappata, S; Giuli, A; Paravatou Petsotas, M; Neri, Giovanni; Brahe, Cristina Beate
1-gen-1996 Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I Brahe, Cristina Beate; Clermont, O; Zappata, S; Tiziano, Francesco Danilo; Melki, J; Neri, Giovanni
1-gen-1996 Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family Zappata, S; Tiziano, Francesco Danilo; Neri, Giovanni; Brahe, Cristina Beate
Mostrati risultati da 1 a 16 di 16
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