检索结果 - Cinzia Bertolin

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  1. 1
    Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

    Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E 由 Claudio Semplicini, John Vissing, Julia R. Dahlqvist, Tanya Stojkovic, Luca Bello, Nanna Witting, Morten Dunø, France Leturcq, Cinzia Bertolin, Paola D’Ambrosio, B. Eymard, C. Angelini, Luisa Politano, Pascal Laforêt, Elena Pegoraro

    出版 2015
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  2. 2
    Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

    Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy 由 Vittoria Lombardi, Giorgia Querin, Oliver J. Ziff, Luca Zampedri, Ilaria Martinelli, Carolin Heller, Martha Foiani, Cinzia Bertolin, Ching‐Hua Lu, Bilal Malik, Kezia Allen, Carlo Rinaldi, Henrik Zetterberg, Amanda Heslegrave, Linda Greensmith, Michael G. Hanna, Gianni Sorarù, Andrea Malaspina, Pietro Fratta

    出版 2019
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  3. 3
    Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice

    Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice 由 Anny Devoy, Bernadett Kalmár, Michelle Stewart, Heesoon Park, Beverley Burke, Suzanna Noy, Yushi Redhead, Jack Humphrey, Kitty Lo, Julian Jaeger, Alan Mejia Maza, Prasanth Sivakumar, Cinzia Bertolin, Gianni Sorarù, Vincent Plagnol, Linda Greensmith, Abraham Acevedo‐Arozena, Adrian M. Isaacs, Benjamin Davies, Pietro Fratta, Elizabeth Fisher

    出版 2017
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  4. 4
    Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

    Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients 由 Giorgia Querin, Cinzia Bertolin, Elisa Da Re, Marco Antônio Volpe, Gabriella Zara, Elena Pegoraro, Nicola Caretta, Carlo Foresta, Maria Silvano, Domenico Corrado, Massimo Iafrate, Lorenzo Angelini, Leonardo Sartori, Maria Pennuto, Alessandra Gaiani, Luca Bello, Claudio Semplicini, Davide Pareyson, Vincenzo Silani, Mario Ermani, Alberto Ferlin, Gianni Sorarù

    出版 2015
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  5. 5
    TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

    TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations 由 Viviana Pensato, Cinzia Tiloca, Lucia Corrado, Cinzia Bertolin, Valentina Sardone, Roberto Del Bo, Daniela Calini, Jessica Mandrioli, Giuseppe Lauria, Letizia Mazzini, Giorgia Querin, Mauro Ceroni, Roberto Cantello, Stefania Corti, Barbara Castellotti, Giulia Soldà, Stefano Duga, Giacomo P. Comi, Cristina Cereda, Gianni Sorarù, Sandra D’Alfonso, Franco Taroni, Christopher E. Shaw, John E. Landers, Nicola Ticozzi, Antonia Ratti, Cinzia Gellera, Vincenzo Silani

    出版 2015
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  6. 6
    Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

    Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy 由 Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xavière Lornage, Nicola Foulds, Simon Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill‐Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano‐Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor

    出版 2022
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  7. 7
    Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

    Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS 由 Bradley Smith, Nicola Ticozzi, Claudia Fallini, Soragia Athina Gkazi, Simon Topp, Kevin P. Kenna, Emma L. Scotter, Jason Kost, Pamela Keagle, Jack W. Miller, Daniela Calini, Caroline Vance, Eric Danielson, Claire Troakes, Cinzia Tiloca, Safa Al‐Sarraj, Elizabeth Lewis, Andrew King, Claudia Colombrita, Viviana Pensato, Barbara Castellotti, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, Peter C. Sapp, Diane McKenna‐Yasek, Russell L. McLaughlin, Meraida Polak, Pamela J. Shaw, Jesús Esteban‐Pérez, José Luís Muñoz-Blanco, Michael A. Simpson, Wouter van Rheenen, Frank P. Diekstra, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Karen Morrison, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Patrick A. Dion, Claire S. Leblond, Guy A. Rouleau, Orla Hardiman, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García‐Redondo, Zheyang Wu, Jonathan D. Glass, Cinzia Gellera, Antonia Ratti, Robert H. Brown, Vincenzo Silani, Christopher E. Shaw, John E. Landers, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin

    出版 2014
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  8. 8
    Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis 由 Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A. Hickman, Thor D. Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S. Sabir, Makayla K. Portley, Arianna Tucci, Kristina Ibáñez, F.N.U. Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, María Landqvist Waldö, Per Johansson, Christer Nilsson, Adelani Adeleye, Luisa Benussi, Giuliano Binetti, Daniel Hupalo, Elisa McGrath Martinez, Harvey B. Pollard, Gauthaman Sukumar, Anthony R. Soltis, Meila Tuck, Xijun Zhang, Matthew D. Wilkerson, Ali Torkamani, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Jason Kost, Neil Kowal, Kevin P. Kenna, Jack W. Miller, Jean Paul Vonsattel, Caroline Vance, Huw R. Morris, Raffaele Ferrari, Claudia Colombrita, Daniela Galimberti, J. Raphael Gibbs, Andrew King, Daniela Calini, Viviana Pensato, Barbara Castellotti, Camille Alba, Dagmar Bačíková, Anneloor L.M.A. ten Asbroek, Elisa McGrath Martinez, Merit Cudkowicz, Russell L. McLaughlin, Meraida Polak, Pamela J. Shaw, Jesús Esteban‐Pérez, José Luís Muñoz-Blanco, Zorica Stević, Sandra D’Alfonso, Kevin P. Kenna, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Kevin P. Kenna, Cinzia Bertolin, Wouter van Rheenen, Frank P. Diekstra, Rosa Rademakers, Marka van Blitterswijk, Khrista Boylan, Safa Al‐Sarraj, Stefano Duga, Andrew King, Cristina Cereda, Hannah A. Pliner, Barbara Castellotti, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Neil W. Kowall, Orla Hardiman, Meraida Polak, Jan H. Veldink, Leonard H. van den Berg, José Luís Muñoz-Blanco, Hardev Pall, Stephen A. Goutman, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García‐Redondo, Zheyang Wu, Russell L. McLaughlin, Antonia Ratti, Robert H. Brown

    出版 2020
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  9. 9
    Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis

    Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis 由 Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada Alahmady, Alan E. Renton, Simon Topp, J. Raphael Gibbs, Mark Cookson, Marya S. Sabir, Clifton L. Dalgard, Claire Troakes, Ashley Jones, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Nicola Ticozzi, Vincenzo Silani, Cinzia Gellera, Ian P. Blair, Carol Dobson‐Stone, John B. Kwok, Emily Bonkowski, Robin Palvadeau, Pentti J. Tienari, Karen Morrison, Pamela J. Shaw, Ammar Al‐Chalabi, Robert H. Brown, Andrea Calvo, Gabriele Mora, Hind Al-Saif, Marc Gotkine, Fawn Leigh, Irene J. Chang, Seth J. Perlman, Ian Glass, Anna I. Scott, Christopher E. Shaw, A. Nazlı Başak, John E. Landers, Adriano Chió, Thomas O. Crawford, Bradley Smith, Bryan J. Traynor, Bradley Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Emma L. Scotter, Kevin P. Kenna, Pamela Keagle, Cinzia Tiloca, Caroline Vance, Claire Troakes, Claudia Colombrita, Andrew King, Viviana Pensato, Barbara Castellotti, Frank Baas, Anneloor L.M.A. ten Asbroek, Diane McKenna‐Yasek, Russell L. McLaughlin, Meraida Polak, Pamela J. Shaw, Jesús Esteban‐Pérez, Zorica Stević, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Rosa Rademakers, Marka van Blitterswijk, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner

    出版 2021
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