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Data di pubblicazione Titolo Autore(i) File
1-gen-2016 New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis Sabatelli, Mario; Marangi, Giuseppe; Conte, Amelia; Tasca, Giorgio; Zollino, Marcella; Lattante, Serena
1-gen-2021 A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families Capoluongo, Ettore Domenico; De Matteis, Elisabetta; Cucinotto, I; Ronzino, G; Santonocito, Concetta; Tornesello, Assunta; De Giorgio, Mr; Lucci Cordisco, Emanuela; Minucci, Angelo; Genuardi, Maurizio
1-gen-2015 NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. Gurrieri, Fiorella; Cavaliere, Ml; Priolo, M; Wischmeijer, A; Mammì, C; Neri, G; Pisanti, Ma; Rodella, G; Laganà, C.
1-gen-2006 A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy Cardaioli, E.; Gallus, G. N.; Da Pozzo, P.; Rufa, A.; Franceschini, R.; Motolese, E.; Caporossi, Aldo; Dotti, M. T.; Federico, A.
1-gen-2000 Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. Frugier, Tony; Tiziano, Francesco Danilo; Cifuentes Diaz, Carmen; Miniou, Pierre; Roblot, Natacha; Dierich, A; Le Meur, M; Melki, Judith
1-gen-2014 Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism Fornarino, S; Stagnaro, M; Rinelli, M; Tiziano, Francesco Danilo; Mancardi, Mm; Traverso, M; Veneselli, E; De Grandis, E.
1-gen-2010 PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism Satterfield, Bc; Garcia, Ra; Gurrieri, Fiorella; Schwartz, Charles
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-2015 Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Del Grande, Alessandra; Marangi, Giuseppe; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Piacentini, Roberto; Bisogni, Giulia; Lattante, Serena; Luigetti, Marco; Rossini, Paolo Maria; Moncada, Alice
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-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-2016 Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes Urreizti, R; Roca Ayats, N; Trepat, J; Garcia Garcia, F; Aleman, A; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; Opitz, Jm; Dopazo, J; Cormand, B; Vilageliu, L; Balcells, S; Grinberg, D.
1-gen-2013 Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients Lattante, Serena; Le Ber, I; Camuzat, A; Pariente, J; Brice, A; Kabashi, E.
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-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-2015 Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 Rubboli, G; Veggiotti, P; Pini, A; Berardinelli, A; Cantalupo, G; Bertini, E; Tiziano, Francesco Danilo; D'Amico, A; Piazza, E; Abiusi, Emanuela; Fiori, S; Pasini, E; Darra, F; Gobbi, G; Michelucci, R.
1-gen-2015 Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD Lattante, Serena; De Calbiac, H; Le Ber, I; Brice, A; Ciura, S; Kabashi, E.
1-gen-2013 TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update Lattante, Serena; Rouleau, Ga; Kabashi, E.
1-gen-2012 The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population Capalbo, Antonio; Sagnella, Francesca; Apa, Rosanna; Fulghesu, Am; Lanzone, Antonio; Morciano, Andrea; Farcomeni, A; Gangale, Mf; Moro, Francesca; Martinez, Daniela; Ciardulli, A; Palla, C; Uras, Ml; Spettu, F; Cappai, A; Carcassi, C; Neri, Giovanni; Tiziano, Francesco Danilo
1-gen-2012 The human OCTN1 (SLC22A4) reconstituted in liposomes catalyzes acetylcholine transport which is defective in the mutant L503F associated to the Crohn's disease Pochini, L; Scalise, M; Galluccio, M; Pani, Giovambattista; Siminovitch, Ka; Indiveri, C.
Mostrati risultati da 50 a 69 di 73
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