نتائج البحث - Giuseppe Marangi
- يعرض 1 - 13 نتائج من 13
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TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype حسب Giuseppe Marangi, Vincenzo Leuzzi, Filippo Manti, Serena Lattante, Daniela Orteschi, Vanna Pecile, Giovanni Neri, Marcella Zollino
منشور في 2012Artigo -
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ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis حسب Serena Lattante, Maria Grazia Pomponi, Amelia Conte, Giuseppe Marangi, Giulia Bisogni, Agata Katia Patanella, Emiliana Meleo, Christian Lunetta, Nilo Riva, Lorena Mosca, Paola Carrera, Marco Bee, Marcella Zollino, Mario Sabatelli
منشور في 2017Artigo -
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Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis حسب Mario Sabatelli, Alice Moncada, Amelia Conte, Serena Lattante, Giuseppe Marangi, Marco Luigetti, Matteo Lucchini, Massimiliano Mirabella, Ângela Romano, Alessandra Del Grande, Giulia Bisogni, Paolo Niccolò Doronzio, Paolo Maria Rossini, Marcella Zollino
منشور في 2013Artigo -
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Deregulated expression of the imprinted <i>DLK1-DIO3</i> region in glioblastoma stemlike cells: tumor suppressor role of lncRNA MEG3 حسب Mariachiara Buccarelli, Valentina Lulli, Alessandro Giuliani, Michele Signore, Maurizio Martini, Quintino Giorgio D’Alessandris, Stefano Giannetti, Agnese Novelli, Ramona Ilari, Giorgio Giurato, Alessandra Boe, Giorgia Castellani, Serena Spartano, Giuseppe Marangi, Mauro Biffoni, Maurizio Genuardi, Roberto Pallini, Giovanna Marziali, Lucia Ricci‐Vitiani
منشور في 2020Artigo -
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SYT1-associated neurodevelopmental disorder: a case series حسب Kate Baker, Sarah L. Gordon, Holly Melland, Fabian Bumbak, Daniel J. Scott, Tess J Jiang, David J. Owen, Bradley J. Turner, Stewart Boyd, Mari Rossi, Mohammed Al‐Raqad, Orly Elpeleg, Dawn Peck, Grazia M.S. Mancini, Martina Wilke, Marcella Zollino, Giuseppe Marangi, Heike Weigand, Ingo Borggraefe, Tobias B. Haack, Zornitza Stark, Simon Sadedin, Tiong Yang Tan, Yunyun Jiang, Richard A. Gibbs, Sara Ellingwood, Michelle D. Amaral, Whitley V. Kelley, Manju A. Kurian, Michael A. Cousin, F. Lucy Raymond
منشور في 2018Artigo -
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Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement حسب Marcella Zollino, Christiane Zweier, Ingrid D. Van Balkom, David A. Sweetser, Joseph T. Alaimo, Emilia K. Bijlsma, Jannine D. Cody, Sarah H. Elsea, Irina Giurgea, Marina Macchiaiolo, Robert Śmigiel, Ronald L. Thibert, Ingrid Benoist, Jill Clayton‐Smith, C.F. de Winter, Stijn Deckers, Anusha Gandhi, Sylvia Huisman, Dagmar R. J. Kempink, Frea H. Kruisinga, Vittoria Lamacchia, Giuseppe Marangi, Leonie A. Menke, Paul A. Mulder, Ann Nordgren, Alessandra Renieri, Sue Routledge, Carol Saunders, Agnieszka Stembalska, Hans van Balkom, Sandra Whalen, Raoul C. M. Hennekam
منشور في 2019Revisão -
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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis حسب Janel O. Johnson, Erik P. Pioro, Ashley Boehringer, Ruth Chia, Howard Feit, Alan E. Renton, Hannah A. Pliner, Yevgeniya Abramzon, Giuseppe Marangi, Brett J Winborn, J. Raphael Gibbs, Michael A. Nalls, Sarah Morgan, Maryam Shoai, John Hardy, Alan Pittman, Richard W. Orrell, Andrea Malaspina, Katie Sidle, Pietro Fratta, Matthew B. Harms, Robert H. Baloh, Alan Pestronk, Conrad C. Weihl, Ekaterina Rogaeva, Lorne Zinman, Vivian E. Drory, Giuseppe Borghero, Gabriele Mora, Andrea Calvo, Jeffrey D. Rothstein, Carsten Drepper, Michael Sendtner, Andrew Singleton, J. Paul Taylor, Mark Cookson, Gabriella Restagno, Mario Sabatelli, Robert Bowser, Adriano Chió, Bryan J. Traynor
منشور في 2014Artigo -
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A Genome-Wide Association Study of Myasthenia Gravis حسب Alan E. Renton, Hannah A. Pliner, Carlo Provenzano, Amelia Evoli, Roberta Ricciardi, Michael A. Nalls, Giuseppe Marangi, Yevgeniya Abramzon, Sampath Arepalli, Sean Chong, Dena Hernández, Janel O. Johnson, Emanuela Bartoccioni, Flavia Scuderi, Michelangelo Maestri, J. Raphael Gibbs, Edoardo Errichiello, Adriano Chió, Gabriella Restagno, Mario Sabatelli, Mark D. Macek, Sonja W. Scholz, Andrea M. Corse, Vinay Chaudhry, Michael Benatar, Richard J. Barohn, April McVey, Mamatha Pasnoor, Mazen M. Dimachkie, Julie Rowin, John T. Kissel, Miriam Freimer, Henry J. Kaminski, Donald B. Sanders, Bernadette Lipscomb, Janice M. Massey, Manisha Chopra, James F. Howard, Wilma J. Koopman, Michael Nicolle, Robert M. Pascuzzi, Alan Pestronk, Charlie Wulf, Julaine Florence, Derrick Blackmore, Aimee Soloway, Zaeem A. Siddiqi, Srikanth Muppidi, Gil I. Wolfe, David P. Richman, Michelle M. Mezei, Theresa Jiwa, Joël Oger, Daniel B. Drachman, Bryan J. Traynor
منشور في 2015Artigo -
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<i>ATXN2</i> polyQ intermediate repeats are a modifier of ALS survival حسب Adriano Chiò, Andrea Calvo, Cristina Moglia, Antonio Canosa, Maura Brunetti, Marco Barberis, Gabriella Restagno, Amelia Conte, Giulia Bisogni, Giuseppe Marangi, Alice Moncada, Serena Lattante, Marcella Zollino, Mario Sabatelli, Alessandra Bagarotti, Lucia Corrado, Gabriele Mora, Enrica Bersano, Letizia Mazzini, Sandra D’Alfonso, Adriano Chiò, Stefania Cammarosano, Antonio Canosa, Dario Cocito, Leonardo Lopiano, Luca Durelli, B Ferrero, Antonio Bertolotto, Alessandro Mauro, Luca Pradotto, Letiia Mazzini, Roberto Cantello, Enrica Bersano, Nicola Nasuelli, Dario Giobbe, M. Gionco, L. Sosso, Daniela Leotta, Lucia Appendino, Roberto Cavallo, Enrico Odddenino, Claudio Geda, Fabio Poglio, Emilio Luda di Cortemiglia, Paola Santimaria, U. Massazza, Angelo Villani, Roberto Conti, Fabrizio Pisano, Mario Palermo, Emilio Ursino, F Vergnano, Ornella Sassone, P. Provera, M. T. Penza, Marco Aguggia, Nicoletta Di Vito, P. Meineri, Ilaria Pastore, Paolo Ghiglione, D. Seliak, Nicola Launaro, Cinzia Cavestro, Giovanni Astegiano, Giovanni Corso, E. Bottacchi
منشور في 2014Artigo -
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Genetic counselling in ALS: facts, uncertainties and clinical suggestions حسب Adriano Chió, Stefania Battistini, Andrea Calvo, Claudia Caponnetto, F. L. Conforti, Massimo Corbo, F. Giannini, Jessica Mandrioli, Gabriele Mora, Mario Sabatelli, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Amelia Conte, Marco Luigetti, Serena Lattante, Giuseppe Marangi, Paolo Volanti, Kalliopi Marinou, Laura Papetti, Christian Lunetta, Giampaolo Pintor, Fabrizio Salvi, Ilaria Bartolomei, Aldo Quattrone, Antonio Gambardella, Giancarlo Logroscino, Isabella Laura Simone, Fabrizio Pisano, Rossella Spataro, Vincenzo La Bella, Tiziana Colletti, Gianluigi Mancardi, Paola Origone, Víctor Pérez, Giuseppe Borghero, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Valeria Piras, E Costantino, Carla Pani, Maria Alessandra Sotgiu, Maura Pugliatti, Leslie D. Parish, P Cossu, Anna Ticca, Carmelo Rodolico, Simona Portaro, Claudia Ricci, Cristina Moglia, Irene Ossola, Maura Brunetti, Marco Barberis, Antonio Canosa, Stefania Cammarosano, Davide Bertuzzo, Giuseppe Fuda, Antonio Ilardi, Umberto Manera, Ida Pastore, William Sproviero, Francesco Logullo, Raffaella Tanel, Clara Ajmone, Enza Mastro, Debora Pain, Paola Mandich, Silvana Penco, Gabriella Restagno, Marcella Zollino, Antonella Surbone
منشور في 2013Revisão -
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TBK1 is associated with ALS and ALS-FTD in Sardinian patients حسب Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Patrizia Occhineri, Tea B. Cau, Daniela Loi, Anna Ticca, S. Traccis, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, J. Raphael Gibbs, Alan E. Renton, Edoardo Errichiello, Magdalena Żołędziewska, Antonella Mulas, Yong Qian, Jun Din, Hannah A. Pliner, Bryan J. Traynor, Adriano Chiò, Francesco Logullo, Isabella Laura Simone, Giancarlo Logroscino, Fabrizio Salvi, Ilaria Bartolomei, Margherita Capasso, Claudia Caponnetto, Paola Mandich, Gianluigi Mancardi, Paola Origone, F. L. Conforti, Giuseppe Vita, Sonia Messina, Massimo Russo, Gabriele Mora, Kalliopi Marinou, Riccardo Sideri, Christian Lunetta, Silvana Penco, Lorena Mosca, Giuseppe Lauria, Massimo Corbo, Nilo Riva, Paola Carrera, Paolo Volanti, Lucio Tremolizzo, Carlo Ferrarese, Nicola Fini, Antonio Fasano, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Francesca Trojsi, Giovanni Piccirillo, Viviana Cristillo, Letizia Mazzini, Sandra D’Alfonso, Anna Bersano, Lucia Corrado, Alessandra Bagarotti, Vincenzo La Bella, Rossella Spataro, Tiziana Colletti, Mario Sabatelli, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Giuseppe Marangi, Marialuisa Santarelli, Antonio Petrucci, Fabio Giannini, Stefania Battistini, Claudia Ricci, Michele Benigni, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Ilardi, Davide Bertuzzo, Raffaella Tanel, Fabrizio Pisano, E Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu
منشور في 2016Artigo -
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Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis حسب Sara Bandrés‐Ciga, Alastair Noyce, Gibran Hemani, A Arosio, Marco Barberis, Ilaria Bartolomei, Stefania Battistini, Michele Benigni, Giuseppe Borghero, Maura Brunetti, Andrea Calvo, Stefania Cammarosano, Antonino Cannas, Antonio Canosa, Margherita Capasso, Claudia Caponnetto, Carla Caredda, Paola Carrera, Federico Casale, Sebastiano Cavallaro, Tiziana Colletti, F. L. Conforti, Amelia Conte, Lucia Corrado, E Costantino, Sandra D’Alfonso, Antonio Fasano, Cinzia Femiano, Carlo Ferrarese, Nicola Fini, Gianluca Floris, Giuseppe Fuda, Fabio Giannini, Maurizio Grassano, Antonio Ilardi, Vincenzo La Bella, Serena Lattante, Giancarlo Logroscino, Francesco Logullo, Daniela Loi, Christian Lunetta, Gianluigi Mancardi, Paola Mandich, Jessica Mandrioli, Umberto Manera, Giuseppe Marangi, Kalliopi Marinou, Giuseppe Marrali, Maria Giovanna Marrosu, Letizia Mazzini, Maurizio Melis, Sonia Messina, Cristina Moglia, Maria Rosaria Monsurrò, Gabriele Mora, Luigi Mosca, Patrizia Occhineri, Paola Origone, Carla Pani, Silvana Penco, Antonio Petrucci, Giovanni Piccirillo, Angelo Pirisi, Fabrizio Pisano, Maura Pugliatti, Gabriella Restagno, Claudia Ricci, Maria Rita Murru, Nilo Riva, Mario Sabatelli, Fabrizio Salvi, Marialuisa Santarelli, Riccardo Sideri, Isabella Laura Simone, Rossella Spataro, Raffaella Tanel, Gioacchino Tedeschi, Stefania Tranquilli, Lucio Tremolizzo, Francesca Trojsi, Paolo Volanti, Marcella Zollino, Yevgeniya Abramzon, Sampath Arepalli, Robert Baloh, Robert Bowser, Christopher B. Brady, Alexis Brice, James R. Broach, Roy H. Campbell, William Camu, Ruth Chia, Johnathan Cooper‐Knock, Daniele Cusi, Jinhui Ding, Carsten Drepper, Vivian E. Drory, Travis Dunckley, John D. Eicher, Faraz Faghri
منشور في 2019Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Medicine
Genetics
Amyotrophic lateral sclerosis
Disease
Mutation
Neuroscience
Internal medicine
Pathology
Exome sequencing
Genotype
Single-nucleotide polymorphism
Chemistry
Cohort
Dementia
Exon
Frontotemporal dementia
Intellectual disability
Missense mutation
Oncology
Phenotype
Psychology
Allele
Attendance
Biochemistry
C9orf72
Cancer
Cancer research
Case-control study