Výsledky vyhledávání - Elisa Giorgio

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  1. 1
    Mitochondrial Complex I Deficiency: Unraveling the Relevance of <scp><i>NDUFAF1</i></scp> in Pediatric Hypertrophic Cardiomyopathy

    Mitochondrial Complex I Deficiency: Unraveling the Relevance of <scp><i>NDUFAF1</i></scp> in Pediatric Hypertrophic Cardiomyopathy Autor Silvia Kalantari, Daniele Veraldi, Davide Politano, Antonia Apicella, Riccardo Castagnoli, Thomas Foiadelli, Fulvio D’Abrusco, Elisa Giorgio, Angela Berardinelli, Alessia Claudia Codazzi, Gian Luigi Marseglia, Enza Maria Valente, Fabio Sirchia

    Vydáno 2025
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  2. 2
    MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease

    MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease Autor Alessandro Mussa, Diana Carli, Elisa Giorgio, Anna Maria Villar, Simona Cardaropoli, Caterina Carbonara, Maria Francesca Campagnoli, Paolo Galletto, Martina Palumbo, Simone Olivieri, Claudio Isella, Grégor Andelfinger, Marco Tartaglia, Giovanni Botta, Alfredo Brusco, Enzo Médico, Giovanni Battista Ferrero

    Vydáno 2021
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  3. 3
    A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

    A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) Autor Elisa Giorgio, Daniel Robyr, Malte Spielmann, Enza Ferrero, Eleonora Di Gregorio, Daniele Imperiale, Giovanna Vaula, Georgios Stamoulis, Federico Santoni, Cristiana Atzori, Laura Gasparini, Denise Ferrera, Claudio Canale, Michel Guipponi, L Pennacchio, Stylianos E. Antonarakis, Alessandro Brussino, Alfredo Brusco

    Vydáno 2015
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  4. 4
    X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

    X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells Autor Bianca Ho, Keelin Greenlaw, Abeer Al Tuwaijri, Sanny Moussette, Francisco Martı́nez, Elisa Giorgio, Alfredo Brusco, Giovanni Battista Ferrero, Natália D. Linhares, Eugênia Ribeiro Valadares, Marta Svartman, Vera M. Kalscheuer, Germán Rodríguez Criado, Catherine Laprise, Celia M.T. Greenwood, Anna K. Naumova

    Vydáno 2018
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  5. 5
    Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

    Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease Autor C. David, Mihaly Badonyi, Robin Kechiche, Antonella Insalaco, Marco Zecca, Fabrizio De Benedetti, Simona Orcesi, Luisa Chiapparini, Patrizia Comoli, Silvia Federici, Marco Gattorno, Monia Ginevrino, Elisa Giorgio, Valentina Matteo, Patricia Morán‐Álvarez, Davide Politano, Giusi Prencipe, Fabio Sirchia, Stefano Volpi, Cécile Masson, Gillian Rice, Marie‐Louise Frémond, Alice Lepelley, Joseph A. Marsh, Yanick J. Crow

    Vydáno 2024
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  6. 6
    ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

    ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 Autor Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, Daniela Lacerenza, Marta Ferrero, Nicola Lo Buono, Neftj Ragusa, Cecilia Mancini, Marion Gaussen, Alessandro Calcia, Nico Mitro, Eriola Hoxha, Isabella Mura, Domenico Coviello, Young-Ah Moon, Christelle Tesson, Giovanna Vaula, Philippe Couarch, Laura Orsi, Eleonora Duregon, Mauro Papotti, Jean-François Deleuze, Jean Imbert, Chiara Costanzi, Alessandro Padovani, Paola Giunti, Marcel Maillet-Vioud, Alexandra Dürr, Alexis Brice, Filippo Tempia, Ada Funaro, Loredana Boccone, Donatella Caruso, Giovanni Stévanin, Alfredo Brusco

    Vydáno 2014
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  7. 7
    Analysis of <i> <scp> <i>LMNB</i> </scp> 1 </i> Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression

    Analysis of <i> <scp> <i>LMNB</i> </scp> 1 </i> Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression Autor Elisa Giorgio, Harshvardhan Rolyan, Laura E. Kropp, Anish Bhaswanth Chakka, Svetlana A. Yatsenko, Eleonora Di Gregorio, Daniela Lacerenza, Giovanna Vaula, Flavia Talarico, Paola Mandich, Camilo Toro, Éléonore Eymard-Pierre, Pierre Labauge, Sabina Capellari, Pietro Cortelli, Filippo Pinto e Vairo, Diego Miguel, Danielle Stubbolo, Lourenco Charles Marques, William A. Gahl, Odile Boespflug‐Tanguy, Atle Melberg, Sharon Hassin‐Baer, Oren Cohen, Rastislav Pjontek, Armin Grau, Thomas Klopstock, Brent L. Fogel, Inge A. Meijer, Guy A. Rouleau, Jean‐Pierre Bouchard, Madhavi K. Ganapathiraju, Adeline Vanderver, Niklas Dahl, Grace M. Hobson, Alfredo Brusco, Alessandro Brussino, Quasar Saleem Padiath

    Vydáno 2013
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  8. 8
    Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

    Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism Autor Jack Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Lambertus Klei, Christine Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura D. Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Alfredo Brusco, Brian Hon‐Yin Chung, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz‐Picciotto, Patrı́cia Maciel, Dara S. Manoach, Maria Rita Passos‐Bueno, Antonio M. Persico, Alessandra Renieri, Flora Tassone, Elisabetta Trabetti, Gabriele da Silva Campos, Marcus C.Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina Girard, Emily Hansen‐Kiss, So Lun Lee, Carla Lintas, Yunin Ludeña, Rachel Nguyen, Lisa Pavinato, Margaret A. Pericak‐Vance, Isaac N. Pessah, Evelise Riberi, Rebecca J. Schmidt, Moyra Smith, Claudia I.C. Souza, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H.C. Yu, David J. Cutler, Silvia De Rubeis, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Stephan Sanders, Michael E. Talkowski

    Vydáno 2021
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  9. 9
    Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Autor F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon‐Yong An, Minshi Peng, Ryan L. Collins, Jakob Grove, Lambertus Klei, Christine Stevens, Jennifer Reichert, Maureen Mulhern, Mykyta Artomov, Sherif Gerges, Brooke Sheppard, Xinyi Xu, Aparna Bhaduri, Utku Norman, Harrison Brand, Grace Schwartz, Rachel Nguyen, Elizabeth E. Guerrero, Caroline Dias, Catalina Betancur, Edwin H. Cook, Louise Gallagher, Michael Gill, James S. Sutcliffe, Audrey Thurm, Michael E. Zwick, Anders D. Børglum, Matthew W. State, A. Ercüment Çiçek, Michael E. Talkowski, David J. Cutler, Bernie Devlin, Stephan Sanders, Kathryn Roeder, Mark J. Daly, Joseph D. Buxbaum, Branko Aleksić, Richard Anney, Mafalda Barbosa, Somer Bishop, Alfredo Brusco, Jonas Bybjerg‐Grauholm, Ángel Carracedo, Marcus C.Y. Chan, Andreas G. Chiocchetti, Brian Hon‐Yin Chung, Hilary Coon, Michael L. Cuccaro, Aurora Currò, Bernardo Dalla Bernardina, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández Prieto, Giovanni Battista Ferrero, Christine M. Freitag, Menachem Fromer, J. Jay Gargus, Daniel H. Geschwind, Elisa Giorgio, Javier González‐Peñas, Stephen J. Guter, Danielle Halpern, Emily Hansen‐Kiss, Xin He, Gail E. Herman, Irva Hertz‐Picciotto, David M. Hougaard, Christina M. Hultman, Iuliana Ionita‐Laza, Suma Jacob, Jesslyn Jamison, Astanand Jugessur, Miia Kaartinen, Gun Peggy Knudsen, Alexander Kolevzon, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Elaine T. Lim, Carla Lintas, W. Ian Lipkin, Diego Lopergolo, Fátima Lopes, Yunin Ludeña, Patrı́cia Maciel, Per Magnus, Behrang Mahjani, Nell Maltman, Dara S. Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy J. Minshew

    Vydáno 2020
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  10. 10
    DLG4-related synaptopathy: a new rare brain disorder

    DLG4-related synaptopathy: a new rare brain disorder Autor Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés, Kimberly A. Aldinger, Íñigo Marcos‐Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, Stéphanie Arpin, Vahid Bahrambeigi, Gea Beunders, Anne‐Marie Bisgaard, Victoria A. Bjerregaard, Ange‐Line Bruel, Thomas D. Challman, Benjamin Cogné, Christine Coubes, de Man, Anne‐Sophie Denommé‐Pichon, Thomas J. Dye, Frances Elmslie, Lars Feuk, Sixto García‐Miñaúr, Tracy S. Gertler, Elisa Giorgio, Nicolas Gruchy, Tobias B. Haack, Chad R. Haldeman‐Englert, Bjørn Ivar Haukanes, Juliane Hoyer, Anna Hurst, Bertrand Isidor, Maria Soller, Sulagna Kushary, Malin Kvarnung, Yuval E. Landau, Kathleen A. Leppig, Anna Lindstrand, Lotte Kleinendorst, Alex MacKenzie, Giorgia Mandrile, Bryce A. Mendelsohn, Setareh Moghadasi, Jenny E.V. Morton, Sébastien Moutton, Amelie J. Müller, Melanie O’Leary, Marta Pacio‐Míguez, María Palomares‐Bralo, Sumit Parikh, Rolph Pfundt, Ben Pode‐Shakked, Anita Rauch, Elena Repnikova, Anya Revah‐Politi, Meredith J. Ross, Claudia Ruivenkamp, Elisabeth Sarrazin, Juliann M. Savatt, Agatha Schlüter, Bitten Schönewolf‐Greulich, Zohra Shad, Charles Shaw‐Smith, Joseph T.C. Shieh, M Shohat, Stephanie Spranger, Heidi Thiese, Frédéric Tran Mau‐Them, Bregje W.M. van Bon, Ineke van de Burgt, Ingrid M.B.H. van de Laar, Esmée van Drie, Mieke M. van Haelst, Conny M.A. van Ravenswaaij‐Arts, Edgard Verdura, Antonio Vitobello, Stephan Waldmüller, Sharon Whiting, Christiane Zweier, Carlos E. Prada, Bert B.A. de Vries, William B. Dobyns, Simone Frizell Reiter, Paulino Gómez‐Puertas, Aurora Pujol, Zeynep Tümer

    Vydáno 2021
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  11. 11
    Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

    Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk Autor F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon‐Yong An, Minshi Peng, Ryan L. Collins, Jakob Grove, Lambertus Klei, Christine Stevens, Jennifer Reichert, Maureen Mulhern, Mykyta Artomov, Sherif Gerges, Brooke Sheppard, Xinyi Xu, Aparna Bhaduri, Utku Norman, Harrison Brand, Grace Schwartz, Rachel Nguyen, Elizabeth E. Guerrero, Caroline Dias, Branko Aleksić, Richard Anney, Mafalda Barbosa, Somer Bishop, Alfredo Brusco, Jonas Bybjerg‐Grauholm, Ángel Carracedo, Marcus C.Y. Chan, Andreas G. Chiocchetti, Brian Hon‐Yin Chung, Hilary Coon, Michael L. Cuccaro, Aurora Currò, Bernardo Dalla Bernardina, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández Prieto, Giovanni Battista Ferrero, Christine M. Freitag, Menachem Fromer, J. Jay Gargus, Daniel H. Geschwind, Elisa Giorgio, Javier González‐Peñas, Stephen J. Guter, Danielle Halpern, Emily Hansen‐Kiss, Xin He, Gail E. Herman, Irva Hertz‐Picciotto, David M. Hougaard, Christina M. Hultman, Iuliana Ionita‐Laza, Suma Jacob, Jesslyn Jamison, Astanand Jugessur, Miia Kaartinen, Gun Peggy Knudsen, Alexander Kolevzon, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Elaine T. Lim, Carla Lintas, W. Ian Lipkin, Diego Lopergolo, Fátima Lopes, Yunin Ludeña, Patrı́cia Maciel, Per Magnus, Behrang Mahjani, Nell Maltman, Dara S. Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy J. Minshew, Eduarda Montenegro M. de Souza, Danielle de Paula Moreira, Eric M. Morrow, Ole Mors, Preben Bo Mortensen, Matthew W. Mosconi, Pierandrea Muglia, Benjamin M. Neale, Merete Nordentoft, Norio Ozaki, Aarno Palotie, Mara Parellada, Maria Rita Passos‐Bueno, Margaret A. Pericak‐Vance, Antonio M. Persico, Isaac N. Pessah, Kaija Puura

    Vydáno 2018
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  12. 12
    Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

    Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism Autor F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon‐Yong An, Minshi Peng, Ryan L. Collins, Jakob Grove, Lambertus Klei, Christine Stevens, Jennifer Reichert, Maureen Mulhern, Mykyta Artomov, Sherif Gerges, Brooke Sheppard, Xinyi Xu, Aparna Bhaduri, Utku Norman, Harrison Brand, Grace Schwartz, Rachel Nguyen, Elizabeth E. Guerrero, Caroline Dias, Branko Aleksić, Richard Anney, Mafalda Barbosa, Somer Bishop, Alfredo Brusco, Jonas Bybjerg‐Grauholm, Ángel Carracedo, Marcus C.Y. Chan, Andreas G. Chiocchetti, Brian Hon‐Yin Chung, Hilary Coon, Michael L. Cuccaro, Aurora Currò, Bernardo Dalla Bernardina, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández Prieto, Giovanni Battista Ferrero, Christine M. Freitag, Menachem Fromer, J. Jay Gargus, Daniel H. Geschwind, Elisa Giorgio, Javier González‐Peñas, Stephen J. Guter, Danielle Halpern, Emily Hansen‐Kiss, Xin He, Gail E. Herman, Irva Hertz‐Picciotto, David M. Hougaard, Christina M. Hultman, Iuliana Ionita‐Laza, Suma Jacob, Jesslyn Jamison, Astanand Jugessur, Miia Kaartinen, Gun Peggy Knudsen, Alexander Kolevzon, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Elaine T. Lim, Carla Lintas, W. Ian Lipkin, Diego Lopergolo, Fátima Lopes, Yunin Ludeña, Patrı́cia Maciel, Per Magnus, Behrang Mahjani, Nell Maltman, Dara S. Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy J. Minshew, Eduarda Montenegro M. de Souza, Danielle de Paula Moreira, Eric M. Morrow, Ole Mors, Preben Bo Mortensen, Matthew W. Mosconi, Pierandrea Muglia, Benjamin M. Neale, Merete Nordentoft, Norio Ozaki, Aarno Palotie, Mara Parellada, Maria Rita Passos‐Bueno, Margaret A. Pericak‐Vance, Antonio M. Persico, Isaac N. Pessah, Kaija Puura

    Vydáno 2018
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  13. 13
    Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

    Rare coding variation provides insight into the genetic architecture and phenotypic context of autism Autor Jack Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Brie Wamsley, Lambertus Klei, Lily Wang, Stephanie P. Hao, Christine Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura D. Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Catalina Betancur, Alfredo Brusco, Brian Hon‐Yin Chung, Edwin H. Cook, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz‐Picciotto, Patrı́cia Maciel, Dara S. Manoach, Maria Rita Passos‐Bueno, Antonio M. Persico, Alessandra Renieri, James S. Sutcliffe, Flora Tassone, Elisabetta Trabetti, Gabriele da Silva Campos, Simona Cardaropoli, Diana Carli, Marcus C.Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina De Sanctis Girardi, Emily Hansen‐Kiss, So Lun Lee, Carla Lintas, Yunin Ludeña, Rachel Nguyen, Lisa Pavinato, Margaret A. Pericak‐Vance, Isaac N. Pessah, Rebecca J. Schmidt, Moyra Smith, Claudia Ismania Samogy Costa, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H.C. Yu, Branko Aleksić, Mykyta Artomov, Elisa Benetti, Monica Biscaldi-Schafer, Anders D. Børglum, Ángel Carracedo, Andreas G. Chiocchetti, Hilary Coon, Ryan N. Doan, Montserrat Fernández Prieto, Christine M. Freitag, Sherif Gerges, Stephen J. Guter, David M. Hougaard, Christina M. Hultman, Suma Jacob, Miia Kaartinen, Alexander Kolevzon, Itaru Kushima, Terho Lehtimäki, Caterina Lo Rizzo, Nell Maltman, Marianna Manara, Gal Meiri, Idan Menashe, Judith Miller, Nancy J. Minshew, Matthew W. Mosconi, Norio Ozaki, Aarno Palotie, Mara Parellada, Kaija Puura, Abraham Reichenberg, Sven Sandin, Stephen W. Scherer, Sabine Schlitt

    Vydáno 2022
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