Výsledky vyhledávání - Simone Martinelli

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  1. 1
    <i>Caenorhabditis elegans</i> provides an efficient drug screening platform for <i>GNAO1</i>-related disorders and highlights the potential role of caffeine in controlling dyskinesia

    <i>Caenorhabditis elegans</i> provides an efficient drug screening platform for <i>GNAO1</i>-related disorders and highlights the potential role of caffeine in controlling dyskines... Autor Martina Di Rocco, Serena Galosi, Enrico Lanza, Federica Tosato, Davide Caprini, Viola Folli, Jennifer Friedman, Gianfranco Bocchinfuso, Alberto Martire, Elia Di Schiavi, Vincenzo Leuzzi, Simone Martinelli

    Vydáno 2021
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  2. 2
    GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments

    GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments Autor María Novelli, Serena Galosi, Giovanna Zorzi, Simone Martinelli, Alessandro Capuano, Francesca Nardecchia, Tiziana Granata, Luca Pollini, Martina Di Rocco, Carlo Efisio Marras, Nardo Nardocci, Vincenzo Leuzzi

    Vydáno 2023
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  3. 3
    Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders

    Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders Autor Simona Coppola, Antonella Insalaco, Erika Zara, Martina Di Rocco, Denise Pires Marafon, Francesca Spadaro, Luca Pannone, Luciapia Farina, Luca Pasquini, Simone Martinelli, Fabrizio De Benedetti, Marco Tartaglia

    Vydáno 2022
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  4. 4
    Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

    Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations Autor Maria Lisa Dentici, Anna Sárközy, Francesca Pantaleoni, Claudio Carta, Francesca Romana Lepri, Rosangela Ferese, Viviana Cordeddu, Simone Martinelli, Silvana Briuglia, M. Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Bruno Dallapiccola

    Vydáno 2009
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  5. 5
    Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

    Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes Autor Simone Martinelli, Paola Torreri, Michele Tinti, Lorenzo Stella, Gianfranco Bocchinfuso, Elisabetta Flex, Alessandro Grottesi, Marina Ceccarini, Antonio Palleschi, Gianni Cesareni, Luisa Castagnoli, Tamara C. Petrucci, Bruce D. Gelb, Marco Tartaglia

    Vydáno 2008
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  6. 6
    Somatic <i>PTPN11</i> mutations in childhood acute myeloid leukaemia

    Somatic <i>PTPN11</i> mutations in childhood acute myeloid leukaemia Autor Marco Tartaglia, Simone Martinelli, Ivano Iavarone, Giovanni Cazzaniga, Mônica Glória Neumann Spínelli, Emanuela Giarin, Valentina Petrangeli, Claudio Carta, Riccardo Masetti, Maurizio Aricò, Franco Locatelli, Giuseppe Basso, M Sorcini, Andrea Pession, Andrea Biondi

    Vydáno 2005
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  7. 7
    Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

    Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease Autor Marco Tartaglia, Simone Martinelli, Lorenzo Stella, Gianfranco Bocchinfuso, Elisabetta Flex, Viviana Cordeddu, Giuseppe Zampino, Ineke van der Burgt, Antonio Palleschi, Tamara C. Petrucci, M Sorcini, Claudia Schoch, Robin Foà, Peter D. Emanuel, Bruce D. Gelb

    Vydáno 2006
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  8. 8
    Therapeutic targeting of Chk1 in NSCLC stem cells during chemotherapy

    Therapeutic targeting of Chk1 in NSCLC stem cells during chemotherapy Autor Monica Bartucci, Susanne Svensson, Paolo Romania, Rosanna Dattilo, Michele Patrizii, Michele Signore, Simone Navarra, Fiorenza Lotti, Mauro Biffoni, Emanuela Pilozzi, Enrico Duranti, Simone Martinelli, Cinzia Rinaldo, Ann Zeuner, Marcello Maugeri‐Saccà, Adriana Eramo, Ruggero De Maria

    Vydáno 2011
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  9. 9
    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature Autor Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia Ruivenkamp, Gijs W.E. Santen, Emilia Bijlsma, Daniela Q.C.M. Barge‐Schaapveld, Katrin Õunap, Victoria Mok Siu, R. Frank Kooy, Bruno Dallapiccola, Bekim Sadiković, Marco Tartaglia

    Vydáno 2020
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  10. 10
    Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties

    Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties Autor Maria Cristina Benedetti, Tiziano D’Andrea, Alessio Colantoni, Д. Н. Силачев, Valeria de Turris, Zaira Boussadia, Valentina A. Babenko, Egor A. Volovikov, Lilia Belikova, Alexandra N. Bogomazova, Rita Pepponi, Dosh Whye, Elizabeth D. Buttermore, Gian Gaetano Tartaglia, Maria A. Lagarkova, Vladimir L. Katanaev, Ilya Musayev, Simone Martinelli, Sergio Fucile, Alessandro Rosa

    Vydáno 2024
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  11. 11
    Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

    Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome Autor Marco Tartaglia, L Pennacchio, Chen Zhao, Kamlesh Yadav, Valentina Fodale, Anna Sárközy, Bhaswati Pandit, Kimihiko Oishi, Simone Martinelli, Wendy Schackwitz, Anna Ustaszewska, Joel Martin, James Bristow, Claudio Carta, Francesca Romana Lepri, Cinzia Neri, Isabella Vasta, Kate Gibson, Cynthia J. Curry, Juan Pedro López Siguero, M. Cristina Digilio, Giuseppe Zampino, Bruno Dallapiccola, Dafna Bar‐Sagi, Bruce D. Gelb

    Vydáno 2006
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  12. 12
    Somatically acquired <i>JAK1</i> mutations in adult acute lymphoblastic leukemia

    Somatically acquired <i>JAK1</i> mutations in adult acute lymphoblastic leukemia Autor Elisabetta Flex, Valentina Petrangeli, Lorenzo Stella, Sabina Chiaretti, Tekla Hornakova, Laurent Knoops, Cristina Ariola, Valentina Fodale, Emmanuelle Clappier, Francesca Paoloni, Simone Martinelli, Alessandra Fragale, Massimo Sanchez, Simona Tavolaro, Monica Messina, Giovanni Cazzaniga, Andrea Camera, Giovanni Pizzolo, Assunta Tornesello, Marco Vignetti, Angela Battistini, Hélène Cavé, Bruce D. Gelb, Jean‐Christophe Renauld, Andrea Biondi, Stefan N. Constantinescu, Robin Foà, Marco Tartaglia

    Vydáno 2008
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  13. 13
    Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

    Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype Autor Simone Martinelli, Alessandro De Luca, Emilia Stellacci, Cesare Rossi, Saula Checquolo, Francesca Romana Lepri, Viviana Caputo, Marianna Silvano, Francesco Buscherini, Federica Consoli, Grazia Ferrara, M. Cristina Digilio, Maria Luigia Cavaliere, Johanna M. van Hagen, Giuseppe Zampino, Ineke van der Burgt, Giovanni Battista Ferrero, Laura Mazzanti, Isabella Screpanti, Helger G. Yntema, Willy M. Nillesen, Ravi Savarirayan, Martin Zenker, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia

    Vydáno 2010
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  14. 14
    Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome

    Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome Autor Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lißewski, Francesca Pantaleoni, Federica Consoli, Francesca Romana Lepri, Monia Magliozzi, Massimiliano Anselmi, Silvia Delle Vigne, Giovanni Sorge, Kadri Karaer, Goran Čuturilo, Alessandro Sartório, Sigrid Tinschert, Maria Accadia, M. Cristina Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D. Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni Battista Ferrero, Simone Martinelli, Marco Tartaglia

    Vydáno 2017
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  15. 15
    Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

    Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair Autor Viviana Cordeddu, Elia Di Schiavi, L Pennacchio, Avi Ma’ayan, Anna Sárközy, Valentina Fodale, Serena Cecchetti, Alessio Cardinale, Joel Martin, Wendy Schackwitz, Anna Lipzen, Giuseppe Zampino, Laura Mazzanti, M. Cristina Digilio, Simone Martinelli, Elisabetta Flex, Francesca Romana Lepri, Deborah Bartholdi, Kerstin Kutsche, Giovanni Battista Ferrero, Cecilia Anichini, Angelo Selicorni, Cesare Rossi, Romano Tenconi, Martin Zenker, Daniela Merlo, Bruno Dallapiccola, Ravi Iyengar, Paolo Bazzicalupo, Bruce D. Gelb, Marco Tartaglia

    Vydáno 2009
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  16. 16
    Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration

    Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration Autor Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky, Guido Primiano, Hamid Galehdari, Mohammadreza Dehghani, Serena Cecchetti, Giovanna Carpentieri, Teresa Rizza, Neda Mazaheri, Alireza Sedaghat, Mohammad Yahya Vahidi Mehrjardi, Alice Traversa, Michela Di Nottia, Maria Kousi, Yalda Jamshidi, Andrea Ciolfi, Viviana Caputo, Reza Azizi Malamiri, Francesca Pantaleoni, Simone Martinelli, Aaron R. Jeffries, Jawaher Zeighami, Amir Sherafat, Daniela Di Giuda, Gholamreza Shariati, Rosalba Carrozzo, Nicholas Katsanis, Reza Maroofian, Serenella Servidei, Marco Tartaglia

    Vydáno 2018
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  17. 17
    Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

    Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function Autor Giovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Roberta Onesimo, Paolo Calligari, Agostina Pietrantoni, Andrea Ciolfi, Marco Ferilli, Cristina Calderan, Gerarda Cappuccio, Simone Martinelli, Elena Messina, Viviana Caputo, Ulrike Hüffmeier, Cyril Mignot, Stéphane Auvin, Yline Capri, Charles Marques Lourenço, Bianca Russell, Ahna Neustad, Nicola Brunetti Pierri, Boris Keren, André Reis, Julie S. Cohen, Alexis Heidlebaugh, Clayton A. Smith, Christian T. Thiel, Leonardo Salviati, Giuseppe Zampino, Philippe M. Campeau, Lorenzo Stella, Marco Tartaglia, Elisabetta Flex

    Vydáno 2024
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  18. 18
    Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

    Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome Autor Viviana Cordeddu, Jiani C. Yin, Cecilia Gunnarsson, Carl Virtanen, Séverine Drunat, Francesca Romana Lepri, Alessandro De Luca, Cesare Rossi, Andrea Ciolfi, Trevor J. Pugh, Alessandro Bruselles, James R. Priest, L Pennacchio, Zhibin Lu, Arnavaz Danesh, Rene Quevedo, Alaa Hamid, Simone Martinelli, Francesca Pantaleoni, Maria Gnazzo, Paola Daniele, Christina Lißewski, Gianfranco Bocchinfuso, Lorenzo Stella, Sylvie Odent, Nicole Philip, Laurence Faivre, Markéta Vlčková, E Seemanová, Cristina Digilio, Martin Zenker, Giuseppe Zampino, Alain Verloès, Bruno Dallapiccola, Amy E. Roberts, Hélène Cavé, Bruce D. Gelb, Benjamin G. Neel, Marco Tartaglia

    Vydáno 2015
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  19. 19
    Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

    Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis Autor Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, Simone Martinelli, Marion Strullu, Eyad K. Fansa, Aurélie Caye, Alessandro De Luca, Francesca Romana Lepri, Radovan Dvorský, Luca Pannone, Stefano Paolacci, S.-C. Zhang, V. Fodale, Gianfranco Bocchinfuso, Cesare Rossi, Emma Burkitt‐Wright, Andrea Farrotti, Emilia Stellacci, Serena Cecchetti, Rosangela Ferese, Lisabianca Bottero, S. Castro, Odile Fenneteau, Benoît Brethon, Massimo Sanchez, Amy E. Roberts, Helger G. Yntema, I. van der Bürgt, Paola Cianci, M.-L. Bondeson, M. Cristina Digilio, Giuseppe Zampino, Briedgeen Kerr, Y. Aoki, Mignon L. Loh, Antonio Palleschi, Elia Di Schiavi, Alessandra Carè, Angelo Selicorni, Bruno Dallapiccola, Ion Cristian Cirstea, Lorenzo Stella, Martin Zenker, Bruce D. Gelb, Hélène Cavé, Mohammad Reza Ahmadian, Marco Tartaglia

    Vydáno 2014
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  20. 20
    Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

    Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes Autor Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni, Simona Coppola, Ehsan Amin, Luca Pannone, Kazem Nouri, Luciapia Farina, Radovan Dvorský, Francesca Romana Lepri, Marcel Buchholzer, Raphael Konopatzki, Laurence E. Walsh, Katelyn Payne, Mary Ella Pierpont, Samantha A. Schrier Vergano, Katherine G. Langley, Douglas P. Larsen, Kelly D. Farwell, Sha Tang, Cameron Mroske, Ivan Gallotta, Elia Di Schiavi, Matteo Della Monica, Licia Lugli, Cesare Rossi, Marco Seri, Guido Cocchi, Lindsay B. Henderson, Berivan Baskin, Mariëlle Alders, Roberto Mendoza‐Londono, Lucie Dupuis, Deborah A. Nickerson, Jessica X. Chong, Naomi Meeks, Kathleen Brown, Tahnee N. Causey, Megan T. Cho, Stephanie Demuth, M. Cristina Digilio, Bruce D. Gelb, Michael J. Bamshad, Martin Zenker, Mohammad Reza Ahmadian, Raoul C. M. Hennekam, Marco Tartaglia, Ghayda Mirzaa

    Vydáno 2018
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