检索结果 - Roberto Simone

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  1. 1
    In vitro prion-like behaviour of TDP-43 in ALS

    In vitro prion-like behaviour of TDP-43 in ALS 由 Phillip Smethurst, Jia Newcombe, Claire Troakes, Roberto Simone, Yun‐Ru Chen, Rickie Patani, Katie Sidle

    出版 2016
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  2. 2
    The complexity of the mammalian transcriptome

    The complexity of the mammalian transcriptome 由 Stefano Gustincich, Albin Sandelin, Charles Plessy, Shintaro Katayama, Roberto Simone, Dejan Lazarević, Yoshihide Hayashizaki, Piero Carninci

    出版 2006
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    Revisão
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  3. 3
    Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy

    Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy 由 Andrea Cortese, Vincent Plagnol, Stefen Brady, Roberto Simone, Tammaryn Lashley, Abraham Acevedo‐Arozena, Rohan de Silva, Linda Greensmith, Janice L. Holton, Michael G. Hanna, Elizabeth Fisher, Pietro Fratta

    出版 2014
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  4. 4
    The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

    The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features 由 Eleanna Kara, Helen Ling, Alan Pittman, Karen Shaw, Rohan de Silva, Roberto Simone, Janice L. Holton, Jason D. Warren, Jonathan D. Rohrer, Georgia Xiromerisiou, Andrew J. Lees, John Hardy, Henry Houlden, Tamás Révész

    出版 2012
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  5. 5
    Promoter architecture of mouse olfactory receptor genes

    Promoter architecture of mouse olfactory receptor genes 由 Charles Plessy, Giovanni Pascarella, Nicolas Bertin, Altuna Akalin, Claudia Carrieri, Anne Vassalli, Dejan Lazarević, Jessica Severin, Christina Vlachouli, Roberto Simone, Geoffrey J. Faulkner, Jun Kawai, Carsten O. Daub, S. Zucchelli, Yoshihide Hayashizaki, Peter Mombaerts, Boris Lenhard, Stefano Gustincich, Piero Carninci

    出版 2011
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  6. 6
    Unexpected expression of α- and β-globin in mesencephalic dopaminergic neurons and glial cells

    Unexpected expression of α- and β-globin in mesencephalic dopaminergic neurons and glial cells 由 Marta Biagioli, Milena Pinto, Daniela Cesselli, Marta Zaninello, Dejan Lazarević, Paola Roncaglia, Roberto Simone, Christina Vlachouli, Charles Plessy, Nicolas Bertin, Antonio Paolo Beltrami, Kazuto Kobayashi, Vittorio Gallo, Claudio Santoro, Isidró Ferrer, Stefano Rivella, Carlo Alberto Beltrami, Piero Carninci, Elio Raviola, Stefano Gustincich

    出版 2009
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  7. 7
    Mesencephalic dopaminergic neurons express a repertoire of olfactory receptors and respond to odorant-like molecules

    Mesencephalic dopaminergic neurons express a repertoire of olfactory receptors and respond to odorant-like molecules 由 Alice Grison, S. Zucchelli, Alice Urzì, Ilaria Zamparo, Dejan Lazarević, Giovanni Pascarella, Paola Roncaglia, Alejandro Giorgetti, Paula Garcia‐Esparcia, Christina Vlachouli, Roberto Simone, Francesca Persichetti, Alistair R. R. Forrest, Yoshihide Hayashizaki, Paolo Carloni, Isidró Ferrer, Claudia Lodovichi, Charles Plessy, Piero Carninci, Stefano Gustincich

    出版 2014
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  8. 8
    Linking promoters to functional transcripts in small samples with nanoCAGE and CAGEscan

    Linking promoters to functional transcripts in small samples with nanoCAGE and CAGEscan 由 Charles Plessy, Nicolas Bertin, Hazuki Takahashi, Roberto Simone, M. Salimullah, Timo Lassmann, Morana Vitezic, Jessica Severin, Signe Olivarius, Dejan Lazarević, Nadine Hornig, Valerio Orlando, Ian Bell, Hui Gao, Jacqueline Dumais, Philipp Kapranov, Huaien Wang, Carrie Davis, T Gingeras, Jun Kawai, Carsten O. Daub, Yoshihide Hayashizaki, Stefano Gustincich, Piero Carninci

    出版 2010
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  9. 9
    Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

    Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia 由 Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcová, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James M. Polke, Muhammad Ilyas, Eloise Tribollet, Pedro José Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stéphanie Efthymiou, Diego Kaski, Nicholas Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo M. Bronstein, Pietro Fratta, Wilson Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden

    出版 2019
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  10. 10
    Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

    Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia 由 Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcová, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James M. Polke, Muhammad Ilyas, Eloise Tribollet, Pedro José Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stéphanie Efthymiou, Diego Kaski, Nicholas Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo M. Bronstein, Pietro Fratta, Wilson Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden

    出版 2019
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    Errata/Corrigenda
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  11. 11
    MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

    MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration 由 Roberto Simone, Faiza Javad, Warren Emmett, Oscar G. Wilkins, Filipa Almeida, Natalia Barahona‐Torres, Justyna Zarȩba-Pasławska, Mazdak Ehteramyan, Paola Zuccotti, A. Modelska, Kavitha Siva, Gurvir S. Virdi, Jamie S. Mitchell, Jasmine Harley, Victoria Kay, Geshanthi Hondhamuni, Daniah Trabzuni, Mina Ryten, Selina Wray, Elisavet Preza, Demis A. Kia, Alan Pittman, Raffaele Ferrari, Claudia Manzoni, Andrew J. Lees, John Hardy, Michela A. Denti, Alessandro Quattrone, Rickie Patani, Per Svenningsson, Thomas T. Warner, Vincent Plagnol, Jernej Ule, Rohan de Silva

    出版 2021
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  12. 12
    Truncating Variants in <i>RFC1</i> in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

    Truncating Variants in <i>RFC1</i> in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 由 Riccardo Ronco, Cecilia Perini, Riccardo Currò, Natalia Dominik, Stefano Facchini, Alice Gennari, Roberto Simone, Skye Stuart, Sara Nagy, Elisa Vegezzi, Ilaria Quartesan, Amar El-Saddig, Timothy Lavin, Arianna Tucci, Agnieszka Szymura, Luiz Eduardo Novis De Farias, Alexander Gary, Megan Delfeld, Priscilla Kandikatla, Nifang Niu, Sanjukta Tawde, Joseph Shaw, James M. Polke, Mary M. Reilly, Nicholas Wood, Emmanuele Crespan, Christopher M. Gómez, Jin Yun Helen Chen, Jeremy D. Schmahmann, David Gosal, Henry Houlden, Soma Das, Andrea Cortese

    出版 2022
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  13. 13
    G‐quadruplex‐binding small molecules ameliorate <i>C9orf72</i> <scp>FTD</scp> / <scp>ALS</scp> pathology <i>in vitro</i> and <i>in vivo</i>

    G‐quadruplex‐binding small molecules ameliorate <i>C9orf72</i> <scp>FTD</scp> / <scp>ALS</scp> pathology <i>in vitro</i> and <i>in vivo</i> 由 Roberto Simone, Rubika Balendra, Thomas G. Moens, Elisavet Preza, Katherine Wilson, Amanda Heslegrave, Nathaniel S. Woodling, Teresa Niccoli, Javier Gilbert‐Jaramillo, Samir Abdelkarim, Emma L. Clayton, Mica T. M. Clarke, Marie‐Therese Konrad, Andrew J. Nicoll, Jamie S. Mitchell, Andrea Calvo, Adriano Chió, Henry Houlden, James M. Polke, Mohamed A. Ismail, Chad E. Stephens, Tam Vo, Abdelbasset A. Farahat, W. David Wilson, David W. Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary N. Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M. Isaacs

    出版 2017
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  14. 14
    A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

    A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry 由 Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Currò, Macarena Cabrera‐Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick M. Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo Parolin Schnekenberg, Gorka Fernández‐Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, M.D. Gardner, David J. Amor, Garth A. Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, Piraye Oflazer, Nazlı Başak, Hülya Kayserili, Gözde Yeşil, Edoardo Malfatti, James B Lilleker, Matthew Wicklund, Robert D. S. Pitceathly, Stefen Brady, Bernard Brais, David Pellerin, Stephan Züchner, Matt C. Danzi, Marina Grandis, Giacomo P. Comi, Stefania Corti, Elena Abati, Antonio Toscano, Arianna Manini, Arianna Ghia, Cristina Tassorelli, Ilaria Quartesan, Roberto Simone, Alexander M. Rossor, Mary M. Reilly, Liam Carroll, Volker Straub, Bjarne Udd, Zhiyong Chen, Gisèle Bonne, Rosaline C. M. Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael Fahey, Enrico Bugiardini, Gianina Ravenscroft

    出版 2024
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