IRIS PubliCatt

Sfoglia per Autore  

Opzioni
Mostrati risultati da 41 a 60 di 77
Data di pubblicazione Titolo Autore(i) File
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-2015 ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion Chiò, A; Mora, G; Sabatelli, Mario; Caponnetto, C; Lunetta, C; Traynor, Bj; Johnson, Jo; Nalls, Ma; Calvo, A; Moglia, C; Borghero, G; Trojsi, F; La Bella, V; Volanti, P; Simone, I; Salvi, F; Logullo, Fo; Riva, N; Carrera, P; Giannini, F; Mandrioli, J; Tanel, R; Capasso, M; Tremolizzo, L; Battistini, S; Murru, Mr; Origone, P; Zollino, Marcella; Penco, S; Mazzini, L; D'Alfonso, S; Restagno, G; Brunetti, M; Barberis, M; Conforti, Fl; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe
1-gen-2015 Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; Orteschi, Daniela; Ricciardi, Stefania; Lattante, Serena; Murdolo, Marina; Battaglia, Domenica Immacolata; Contaldo, Ilaria; Mercuri, Eugenio Maria; Stefanini, Mc; Caumes, R; Edery, P; Rossi, M; Piccione, M; Corsello, G; Della Monica, M; Scarano, F; Priolo, M; Gentile, M; Zampino, Giuseppe; Vijzelaar, R; Abdulrahman, O; Rauch, A; Oneda, B; Deardorff, Ma; Saitta, Sc; Falk, Mj; Dubbs, H; Zackai, E.
1-gen-2015 ATXN2 polyQ intermediate repeats are a modifier of ALS survival Chiò, A; Calvo, A; Moglia, C; Canosa, A; Brunetti, M; Barberis, M; Restagno, G; Conte, Amelia; Bisogni, Giulia; Marangi, Giuseppe; Moncada, Alice; Lattante, Serena; Zollino, Marcella; Sabatelli, Mario; Bagarotti, A; Corrado, L; Mora, G; Bersano, E; Mazzini, L; D'Alfonso, S.
1-gen-2015 CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients Chiò, A; Mora, G; Sabatelli, Mario; Caponnetto, C; Traynor, Bj; Johnson, Jo; Nalls, Ma; Calvo, A; Moglia, C; Borghero, G; Monsurrò, Mr; La Bella, V; Volanti, P; Simone, I; Salvi, F; Logullo, Fo; Nilo, R; Battistini, S; Mandrioli, J; Tanel, R; Murru, Mr; Mandich, P; Zollino, Marcella; Conforti, Fl; Brunetti, M; Barberis, M; Restagno, G; Penco, S; Lunetta, C; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe
1-gen-2014 Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders Lattante, Serena; Millecamps, S; Stevanin, G; Rivaud Péchoux, S; Moigneu, C; Camuzat, A; Da Barroca, S; Mundwiller, E; Couarch, P; Salachas, F; Hannequin, D; Meininger, V; Pasquier, F; Seilhean, D; Couratier, P; Danel Brunaud, V; Bonnet, A; Tranchant, C; Leguern, E; Brice, A; Le Ber, I; Kabashi, E.
1-gen-2014 hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes Le Ber, I; Van Bortel, I; Nicolas, G; Bouya Ahmed, K; Camuzat, A; Wallon, D; De Septenville, A; Latouche, M; Lattante, Serena; Kabashi, E; Jornea, L; Hannequin, D; Brice, A.
1-gen-2014 Genetic counselling in ALS: facts, uncertainties and clinical suggestions Chiò, A; Battistini, S; Calvo, A; Caponnetto, C; Conforti, Fl; Corbo, M; Giannini, F; Mandrioli, J; Mora, G; Sabatelli, Mario; Ajmone, C; Mastro, E; Pain, D; Mandich, P; Penco, S; Restagno, G; Zollino, Marcella; Surbone, A; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe
1-gen-2014 Homozygous TREM2 mutation in a family with atypical frontotemporal dementia Le Ber, I; De Septenville, A; Guerreiro, R; Bras, J; Camuzat, A; Caroppo, P; Lattante, Serena; Couarch, P; Kabashi, E; Bouya Ahmed, K; Dubois, B; Brice, A.
1-gen-2014 Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions Lattante, Serena; Le Ber, I; Galimberti, D; Serpente, M; Rivaud Péchoux, S; Camuzat, A; Clot, F; Fenoglio, C; Scarpini, E; Brice, A; Kabashi, E.
1-gen-2014 Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis Johnson, Jo; Pioro, Ep; Boehringer, A; Chia, R; Feit, H; Renton, Ae; Pliner, Ha; Abramzon, Y; Marangi, Giuseppe; Winborn, Bj; Gibbs, Jr; Nalls, Ma; Morgan, S; Shoai, M; Hardy, J; Pittman, A; Orrell, Rw; Malaspina, A; Sidle, Kc; Fratta, P; Harms, Mb; Baloh, Rh; Pestronk, A; Weihl, Cc; Rogaeva, E; Zinman, L; Drory, Ve; Borghero, G; Mora, G; Calvo, A; Rothstein, Jd; Drepper, C; Sendtner, M; Singleton, Ab; Taylor, Jp; Cookson, Mr; Restagno, G; Sabatelli, Mario; Bowser, R; Chiò, A; Traynor, Bj; Conte, Amelia; Luigetti, Marco; Zollino, Marcella; Lattante, Serena
1-gen-2013 TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia Lattante, Serena; Le Ber, I; Camuzat, A; Dayan, S; Godard, C; Van Bortel, I; De Septenville, A; Ciura, S; Brice, A; Kabashi, E.
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-2013 Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France Lattante, Serena; Le Ber, I; Camuzat, A; Brice, A; 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-2013 Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis Sabatelli, Mario; Moncada, A; Conte, Amelia; Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Del Grande, Alessandra; Bisogni, Giulia; Doronzio, Pn; Rossini, Paolo Maria; Zollino, Marcella
1-gen-2013 Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis Sabatelli, Mario; Moncada, Alice; Conte, Amelia; Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Del Grande, Alessandra; Bisogni, Giulia; Doronzio, Pn; Rossini, Paolo Maria; Zollino, Marcella
1-gen-2013 Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis Ciura, S; Lattante, Serena; Le Ber, I; Latouche, M; Tostivint, H; Brice, A; Kabashi, E.
1-gen-2013 TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype Marangi, Giuseppe; Leuzzi, V; Manti, F; Lattante, Serena; Orteschi, Daniela; Pecile, V; Neri, Giovanni; Zollino, Marcella
1-gen-2013 A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis Luigetti, Marco; Lattante, Serena; Conte, Amelia; Romano, Angela; Zollino, Marcella; Marangi, Giuseppe; Sabatelli, Mario
Mostrati risultati da 41 a 60 di 77
Legenda icone

  •  file ad accesso aperto
  •  file disponibili sulla rete interna
  •  file disponibili agli utenti autorizzati
  •  file disponibili solo agli amministratori
  •  file sotto embargo
  •  nessun file disponibile