Sfoglia per Autore
Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges
2015 Marangi, Giuseppe; Traynor, Bryan J.
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations
2015 Mirabella, Massimiliano; Zollino, Marcella; Conte, A; Del Grande, A; Marangi, Giuseppe; Lucchini, M; Mirabella, M; Romano, A; Piacentini, Roberto; Bisogni, G; Lattante, S; Luigetti, Marco; Rossini, Paolo Maria; Moncada, A.
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients
2015 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.
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
2015 Cafiero, C; Marangi, Giuseppe; Orteschi, Daniela; Ali, M; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, Eugenio Maria; Slavotinek, Am; Zollino, Marcella
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion
2015 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
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations
2015 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
TBK1 is associated with ALS and ALS-FTD in Sardinian patients
2015 Borghero, Giuseppe; Pugliatti, Maura; Marrosu, Francesco; Marrosu, Maria Giovanna; Murru, Maria Rita; Floris, Gianluca; Cannas, Antonino; Occhineri, Patrizia; Cau, Tea B.; Loi, Daniela; Ticca, Anna; Traccis, Sebastiano; Manera, Umberto; Canosa, Antonio; Moglia, Cristina; Calvo, Andrea; Barberis, Marco; Brunetti, Maura; Gibbs, J. Raphael; Renton, Alan E.; Errichiello, Edoardo; Zoledziewska, Magdalena; Mulas, Antonella; Qian, Yong; Din, Jun; Pliner, Hannah A.; Traynor, Bryan J.; Chiò, Adriano; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Capasso, Margherita; Caponnetto, Claudia; Mandich, Paolo; Mancardi, Gianluigi; Origone, Paola; Conforti, Francesca L.; Vita, Giuseppe; Messina, Sonia; Russo, Massimo; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Lunetta, Christian; Penco, Silvana; Mosca, Lorena; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Tremolizzo, Lucio; Ferrarese, Carlo; Fini, Nicola; Fasano, Antonio; Monsurrò, Maria Rosaria; Tedeschi, Gioacchino; Trojsi, Francesca; Piccirillo, Giovanni; Cristillo, Viviana; Mazzini, Letizia; D'Alfonso, Sandra; Bersano, Anna; Corrado, Lucia; Bagarotti, Alessandra; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Giannini, Fabio; Battistini, Stefania; Ricci, Claudia; Benigni, Michele; Restagno, Gabriella; Casale, Federico; Marrali, Giuseppe; Fuda, Giuseppe; Ossola, Irene; Cammarosano, Stefania; Ilardi, Antonio; Bertuzzo, Davide; Tanel, Raffaella; Pisano, Fabrizio; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Pirisi, Angelo; Parish, Leslie D.; Ortu, Enzo
Genetic counselling in ALS: facts, uncertainties and clinical suggestions
2014 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
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
2014 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
Utility and Challenges of Next Generation Sequencing in Pediatric Disorders
2014 Longoni, M.; Marangi, Giuseppe; Zollino, Marcella
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
2014 Wenger, Tl; Harr, M; Ricciardi, Stefania; Bhoj, E; Santani, A; Adam, Mp; Barnett, Ss; Ganetzky, R; Mcdonald Mcginn, Dm; Battaglia, Domenica Immacolata; Bigoni, S; Selicorni, A; Sorge, G; Monica, Md; Mari, F; Andreucci, E; Romano, S; Cocchi, G; Savasta, S; Malbora, B; Marangi, Giuseppe; Garavelli, L; Zollino, Marcella; Zackai, Eh
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder
2014 Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia Rosaria; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder
2014 Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia Rosaria; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata
Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges
2014 Marangi, Giuseppe; Traynor, Bj
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis
2013 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
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis
2013 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
Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family
2013 Marangi, Giuseppe; Orteschi, Daniela; Milano, Valentina; Mancano, Giorgia; Zollino, Marcella
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype
2013 Marangi, Giuseppe; Leuzzi, V; Manti, F; Lattante, Serena; Orteschi, Daniela; Pecile, V; Neri, Giovanni; Zollino, Marcella
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis
2013 Luigetti, Marco; Lattante, Serena; Conte, Amelia; Romano, Angela; Zollino, Marcella; Marangi, Giuseppe; Sabatelli, Mario
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients
2012 Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Conte, Amelia; Mandrioli, J; Del Grande, Alessandra; Zollino, Marcella; Sabatelli, Mario
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2015 | Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges | Marangi, Giuseppe; Traynor, Bryan J. | |
1-gen-2015 | Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations | Mirabella, Massimiliano; Zollino, Marcella; Conte, A; Del Grande, A; Marangi, Giuseppe; Lucchini, M; Mirabella, M; Romano, A; Piacentini, Roberto; Bisogni, G; Lattante, S; Luigetti, Marco; Rossini, Paolo Maria; Moncada, A. | |
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 | Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome | Cafiero, C; Marangi, Giuseppe; Orteschi, Daniela; Ali, M; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, Eugenio Maria; Slavotinek, Am; Zollino, Marcella | |
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 | 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-2015 | TBK1 is associated with ALS and ALS-FTD in Sardinian patients | Borghero, Giuseppe; Pugliatti, Maura; Marrosu, Francesco; Marrosu, Maria Giovanna; Murru, Maria Rita; Floris, Gianluca; Cannas, Antonino; Occhineri, Patrizia; Cau, Tea B.; Loi, Daniela; Ticca, Anna; Traccis, Sebastiano; Manera, Umberto; Canosa, Antonio; Moglia, Cristina; Calvo, Andrea; Barberis, Marco; Brunetti, Maura; Gibbs, J. Raphael; Renton, Alan E.; Errichiello, Edoardo; Zoledziewska, Magdalena; Mulas, Antonella; Qian, Yong; Din, Jun; Pliner, Hannah A.; Traynor, Bryan J.; Chiò, Adriano; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Capasso, Margherita; Caponnetto, Claudia; Mandich, Paolo; Mancardi, Gianluigi; Origone, Paola; Conforti, Francesca L.; Vita, Giuseppe; Messina, Sonia; Russo, Massimo; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Lunetta, Christian; Penco, Silvana; Mosca, Lorena; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Tremolizzo, Lucio; Ferrarese, Carlo; Fini, Nicola; Fasano, Antonio; Monsurrò, Maria Rosaria; Tedeschi, Gioacchino; Trojsi, Francesca; Piccirillo, Giovanni; Cristillo, Viviana; Mazzini, Letizia; D'Alfonso, Sandra; Bersano, Anna; Corrado, Lucia; Bagarotti, Alessandra; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Giannini, Fabio; Battistini, Stefania; Ricci, Claudia; Benigni, Michele; Restagno, Gabriella; Casale, Federico; Marrali, Giuseppe; Fuda, Giuseppe; Ossola, Irene; Cammarosano, Stefania; Ilardi, Antonio; Bertuzzo, Davide; Tanel, Raffaella; Pisano, Fabrizio; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Pirisi, Angelo; Parish, Leslie D.; Ortu, Enzo | |
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 | 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-2014 | Utility and Challenges of Next Generation Sequencing in Pediatric Disorders | Longoni, M.; Marangi, Giuseppe; Zollino, Marcella | |
1-gen-2014 | CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases | Wenger, Tl; Harr, M; Ricciardi, Stefania; Bhoj, E; Santani, A; Adam, Mp; Barnett, Ss; Ganetzky, R; Mcdonald Mcginn, Dm; Battaglia, Domenica Immacolata; Bigoni, S; Selicorni, A; Sorge, G; Monica, Md; Mari, F; Andreucci, E; Romano, S; Cocchi, G; Savasta, S; Malbora, B; Marangi, Giuseppe; Garavelli, L; Zollino, Marcella; Zackai, Eh | |
1-gen-2014 | Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder | Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia Rosaria; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata | |
1-gen-2014 | Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder | Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia Rosaria; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata | |
1-gen-2014 | Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges | Marangi, Giuseppe; Traynor, Bj | |
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 | Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family | Marangi, Giuseppe; Orteschi, Daniela; Milano, Valentina; Mancano, Giorgia; Zollino, Marcella | |
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 | |
1-gen-2012 | Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients | Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Conte, Amelia; Mandrioli, J; Del Grande, Alessandra; Zollino, Marcella; Sabatelli, Mario |
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