Výsledky vyhledávání - Emanuele Bellacchio

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  1. 1
    Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

    Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism Autor Laura Silvestri, Viviana Caputo, Emanuele Bellacchio, Luigia Atorino, Bruno Dallapiccola, Enza Maria Valente, Giorgio Casari

    Vydáno 2005
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  2. 2
    Targeting Proliferating Cell Nuclear Antigen and Its Protein Interactions Induces Apoptosis in Multiple Myeloma Cells

    Targeting Proliferating Cell Nuclear Antigen and Its Protein Interactions Induces Apoptosis in Multiple Myeloma Cells Autor Rebekka Müller, Kristine Misund, Toril Holien, Siri Bachke, Karin M. Gilljam, Thea Kristin Våtsveen, Torstein B. Rø, Emanuele Bellacchio, Anders Sundan, Marit Otterlei

    Vydáno 2013
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  3. 3
    Calcium EXAFS Establishes the Mn-Ca Cluster in the Oxygen-Evolving Complex of Photosystem II

    Calcium EXAFS Establishes the Mn-Ca Cluster in the Oxygen-Evolving Complex of Photosystem II Autor Roehl M. Cinco, Karen L. McFarlane Holman, John H. Robblee, Junko Yano, Shelly A. Pizarro, Emanuele Bellacchio, Kenneth Sauer, Vittal K. Yachandra

    Vydáno 2002
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  4. 4
    Dominant Noonan syndrome-causing <i>LZTR1</i> mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

    Dominant Noonan syndrome-causing <i>LZTR1</i> mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling Autor Marialetizia Motta, Miray Fidan, Emanuele Bellacchio, Francesca Pantaleoni, Konstantin Schneider‐Heieck, Simona Coppola, Guntram Borck, Leonardo Salviati, Martin Zenker, Ion Cristian Cirstea, Marco Tartaglia

    Vydáno 2018
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  5. 5
    P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7

    P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7 Autor Parith Wongkittichote, Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Davide Carvalho, Adrianna Banzzatto Ortega, Claudio de Gusmao, Matheus Augusto Araújo Castro, Tomi L. Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi

    Vydáno 2023
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  6. 6
    ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression

    ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression Autor Anna Guarini, M Marinelli, Simona Tavolaro, Emanuele Bellacchio, M. Magliozzi, Sabina Chiaretti, M. S. De Propris, Nadia Peragine, Simona Santangelo, Francesca Paoloni, M. Nanni, Ilaria Del Giudice, Francesca Romana Mauro, Isabella Torrente, R. Foà

    Vydáno 2011
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  7. 7
    A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

    A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease Autor Daria Diodato, Giorgio Tasca, Daniela Verrigni, Adele D’Amico, Teresa Rizza, Giulia Tozzi, Diego Martinelli, Margherita Verardo, Federica Invernizzi, Alessia Nasca, Emanuele Bellacchio, Daniele Ghezzi, Fiorella Piemonte, Carlo Dionisi‐Vici, Rosalba Carrozzo, Enrico Bertini

    Vydáno 2015
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  8. 8
    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome Autor Alessandro De Luca, Irene Bottillo, Anna Sárközy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria Michela Rinaldi, Massimo Carella, Bruno Marino, Antonio Pizzuti, M. Cristina Digilio, Marco Tartaglia, Bruno Dallapiccola

    Vydáno 2005
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  9. 9
    Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

    Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome Autor Francesco Brancati, Paola Fortugno, Irene Bottillo, Marc Lopez, Emmanuelle Josselin, O Boudghène-Stambouli, Emanuele Agolini, Laura Bernardini, Emanuele Bellacchio, Miriam Iannicelli, Alfredo Rossi, A. Dib-Lachachi, Liborio Stuppia, Giandomenico Palka, Stefan Mundlos, Sigmar Stricker, Uwe Kornak, Giovanna Zambruno, Bruno Dallapiccola

    Vydáno 2010
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  10. 10
    TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

    TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy Autor Antonella Sferra, Gilbert Baillat, Teresa Rizza, Sabina Barresi, Elisabetta Flex, Giorgio Tasca, Adele D’Amico, Emanuele Bellacchio, Andrea Ciolfi, Viviana Caputo, Serena Cecchetti, Annalaura Torella, Ginevra Zanni, Daria Diodato, Emanuela Piermarini, Marcello Niceta, Antonietta Coppola, Enrico Tedeschi, Diego Martinelli, Carlo Dionisi‐Vici, Vincenzo Nigro, Bruno Dallapiccola, Claudia Compagnucci, Marco Tartaglia, Georg Haase, Enrico Bertini

    Vydáno 2016
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  11. 11
    Clinical-genetic features and peculiar muscle histopathology in infantile<i>DNM1L</i>-related mitochondrial epileptic encephalopathy

    Clinical-genetic features and peculiar muscle histopathology in infantile<i>DNM1L</i>-related mitochondrial epileptic encephalopathy Autor Daniela Verrigni, Michela Di Nottia, Anna Ardissone, Enrico Baruffini, Alessia Nasca, Andrea Legati, Emanuele Bellacchio, Gigliola Fagiolari, Diego Martinelli, Lucia Fusco, Domenica Battaglia, Giulia Trani, Gianmarco Versienti, Silvia Marchet, Alessandra Torraco, Teresa Rizza, Margherita Verardo, Adele D’Amico, Daria Diodato, Isabella Moroni, Costanza Lamperti, Stefania Petrini, Maurizio Moggio, P Goffrini, Daniele Ghezzi, Rosalba Carrozzo, Enrico Bertini

    Vydáno 2019
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  12. 12
    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies Autor Richard Holt, Rodrigo Young, Berta Crespo, Fabiola Ceroni, Cynthia J. Curry, Emanuele Bellacchio, Dorine A. Bax, Andrea Ciolfi, Marleen Simon, Christina Fagerberg, Ellen van Binsbergen, Alessandro De Luca, Luigi Memo, William B. Dobyns, Alaa Afif Mohammed, Samuel Clokie, Celia Zazo Seco, Yong-hui Jiang, Kristina P. Sørensen, Helle Andersen, Jennifer A. Sullivan, Zöe Powis, Anna Chassevent, Constance Smith‐Hicks, Slavé Petrovski, Thalia Antoniadi, Vandana Shashi, Bruce D. Gelb, Stephen W. Wilson, Dianne Gerrelli, Marco Tartaglia, Nicolas Chassaing, Patrick Calvas, Nicola Ragge

    Vydáno 2019
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  13. 13
    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling Autor Yuh‐Charn Lin, Marcello Niceta, Valentina Muto, Barbara Vona, Alistair T. Pagnamenta, Reza Maroofian, Christian Beetz, H. van Duyvenvoorde, Maria Lisa Dentici, Peter Lauffer, Sadeq Vallian, Andrea Ciolfi, Simone Pizzi, Peter Bauer, Nana‐Maria Grüning, Emanuele Bellacchio, Andrea Del Fattore, Stefania Petrini, Ranad Shaheen, Dov Tiosano, Rana Halloun, Ben Pode‐Shakked, Hatice Mutlu Albayrak, Emregül Işık, Jan M. Wit, Marcus Dittrich, Bruna Lucheze Freire, Débora Romeo Bertola, Alexander A.L. Jorge, Ortal Barel, Ataf Sabir, Amal M.J. Al Tenaiji, Sulaima Mhd Taji, Nouriya Al‐Sannaa, Hind Y. Al-Abdulwahed, M. Cristina Digilio, Melita Irving, Yair Anikster, Gandham SriLakshmi Bhavani, Katta M. Girisha, Thomas Haaf, Jenny C. Taylor, Bruno Dallapiccola, Fowzan S. Alkuraya, Ruey‐Bing Yang, Marco Tartaglia

    Vydáno 2020
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  14. 14
    Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

    Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum Autor Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti, Andrea Ciolfi, Martina Di Rocco, Mariet W. Elting, Eva H. Brilstra, Stefania Boni, Laura Mazzanti, Federica Tamburrino, Larry Walsh, Katelyn Payne, Alberto Fernández‐Jaén, Mythily Ganapathi, Wendy K. Chung, Dorothy K. Grange, Ashita Dave‐Wala, Shalini C. Reshmi, Dennis W. Bartholomew, Danielle Mouhlas, Giovanna Carpentieri, Alessandro Bruselles, Simone Pizzi, Emanuele Bellacchio, Francesca Piceci‐Sparascio, Christina Lißewski, Julia Brinkmann, Ronald R. Waclaw, Quinten Waisfisz, Koen L.I. van Gassen, Ingrid M. Wentzensen, Michelle M. Morrow, Sara Álvarez, Mónica Mártinez‐García, Alessandro De Luca, Luigi Memo, Giuseppe Zampino, Cesare Rossi, Marco Seri, Bruce D. Gelb, Martin Zenker, Bruno Dallapiccola, Lorenzo Stella, Carlos E. Prada, Simone Martinelli, Elisabetta Flex, Marco Tartaglia

    Vydáno 2020
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