Resultados de búsqueda - Chiara Fiorillo

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  1. 1
    Congenital myopathies: clinical phenotypes and new diagnostic tools

    Congenital myopathies: clinical phenotypes and new diagnostic tools por Denise Cassandrini, Rosanna Trovato, Anna Rubegni, Sara Lenzi, Chiara Fiorillo, Jacopo Baldacci, Carlo Minetti, Guja Astrea, Claudio Bruno, Filippo M. Santorelli

    Publicado 2017
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  2. 2
    Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis

    Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis por Elisabetta Gazzerro, Sımona Baldassari, Stefania Assereto, Floriana Fruscione, Angela Pistorio, Chiara Panicucci, Stefano Volpi, Lisa Perruzza, Chiara Fiorillo, Carlo Minetti, Elisabetta Traggiai, Fabio Grassi, Claudio Bruno

    Publicado 2015
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  3. 3
    Pathogenic <i>TNNT1</i> variants are associated with aberrant thin filament compliance and myofibre hyper‐contractility

    Pathogenic <i>TNNT1</i> variants are associated with aberrant thin filament compliance and myofibre hyper‐contractility por Jenni Laitila, Christopher T. A. Lewis, Anthony L. Hessel, Guido Primiano, Aurelio Hernández‐Laín, Chiara Fiorillo, Michael W. Lawlor, Coen A. C. Ottenheijm, Heinz Jungbluth, K Man, Arianna Fornili, Julien Ochala

    Publicado 2025
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  4. 4
    Novel Dynein<i>DYNC1H1</i>Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development

    Novel Dynein<i>DYNC1H1</i>Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development por Chiara Fiorillo, Francesca Moro, Julie Yi, Sarah J. Weil, Giacomo Brisca, Guja Astrea, Mariasavina Severino, Alessandro Romano, Roberta Battini, Andrea Rossi, Carlo Minetti, Claudio Bruno, Filippo M. Santorelli, Richard B. Vallee

    Publicado 2013
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  5. 5
    Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging

    Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging por Anna Cozzi, Daniel Orellana, Paolo Santambrogio, Alicia Rubio, Cinzia Cancellieri, Serena Giannelli, Maddalena Ripamonti, Stefano Taverna, Giulia Di Lullo, Ermanna Rovida, Maurizio Ferrari, Gian Luca Forni, Chiara Fiorillo, Vania Broccoli, Sonia Levi

    Publicado 2019
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  6. 6
    Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells

    Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells por Nastasia Cardone, Valentina Taglietti, Serena Baratto, Kaouthar Kefi, Baptiste Periou, Cyril Gitiaux, Christine Barnérias, Peggy Lafuste, France Leturcq Pharm, Juliette Nectoux Pharm, Chiara Panicucci, Isabelle Desguerre, Claudio Bruno, François‐Jérôme Authier, Chiara Fiorillo, Frédéric Relaix, Edoardo Malfatti

    Publicado 2023
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  7. 7
    Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

    Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort por Michela Catteruccia, Fabiana Fattori, Valentina Codemo, Lucia Ruggiero, Lorenzo Maggi, Giorgio Tasca, Chiara Fiorillo, Marika Pane, Angela Berardinelli, Margherita Verardo, Cinzia Bragato, Marina Mora, Lucia Morandi, Claudio Bruno, Lucio Santoro, Elena Pegoraro, Eugenio Mercuri, Enrico Bertini, Adele D’Amico

    Publicado 2013
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  8. 8
    Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

    Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy por Jacob A. Ross, Yotam Levy, Michela Ripolone, Justin Kolb, Mark Turmaine, Mark Holt, Maurizio Moggio, Chiara Fiorillo, Johan Lindqvist, Nicolas Figeac, Peter S. Zammit, Heinz Jungbluth, John Vissing, Nanna Witting, Henk Granzier, Edmar Zanoteli, Edna C. Hardeman, Carina Wallgren‐Pettersson, Julien Ochala

    Publicado 2019
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  9. 9
    Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy

    Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy por Valentina Taglietti, Kaouthar Kefi, Lea Rivera, Oriane Bergiers, Nastasia Cardone, Fanny Coulpier, Stamatia Gioftsidi, Bernadette Drayton‐Libotte, Cyrielle Hou, François‐Jérôme Authier, France Piétri‐Rouxel, Matthieu P. Robert, Dominique Brémond‐Gignac, Claudio Bruno, Chiara Fiorillo, Edoardo Malfatti, Peggy Lafuste, Laurent Tiret, Frédéric Relaix

    Publicado 2023
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  10. 10
    Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

    Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy por Jacob A. Ross, Yotam Levy, Michela Ripolone, Justin Kolb, Mark Turmaine, Mark Holt, Johan Lindqvist, Kristl G. Claeys, Joachim Weis, Mauro Monforte, Giorgio Tasca, Maurizio Moggio, Nicolas Figeac, Peter S. Zammit, Heinz Jungbluth, Chiara Fiorillo, John Vissing, Nanna Witting, Henk Granzier, Edmar Zanoteli, Edna C. Hardeman, Carina Wallgren‐Pettersson, Julien Ochala

    Publicado 2019
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  11. 11
    NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

    NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy por Natasha Ranu, Jenni Laitila, Hannah F. Dugdale, Jennifer Mariano, Justin Kolb, Carina Wallgren‐Pettersson, Nanna Witting, John Vissing, Juan J. Vílchez, Chiara Fiorillo, Edmar Zanoteli, Mari Auranen, Manu Jokela, Giorgio Tasca, Kristl G. Claeys, Nicol C. Voermans, Johanna Palmio, Sanna Huovinen, Maurizio Moggio, Thomas Beck, Aikaterini Kontrogianni‐Konstantopoulos, Henk Granzier, Julien Ochala

    Publicado 2022
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  12. 12
    Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy

    Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy por Kathryn R. Wagner, Hoda Abdel‐Hamid, Jean K. Mah, Craig Campbell, Michela Guglieri, Francesco Muntoni, Yasuhiro Takeshima, Craig M. McDonald, Anna Kostera‐Pruszczyk, Peter Karachunski, Russell J. Butterfield, Eugenio Mercuri, Chiara Fiorillo, Enrico Bertini, Cuixia Tian, Jeffrey Statland, Alesia Sadosky, Vivek S. Purohit, Sarah P. Sherlock, Jeffrey Palmer, Michael Binks, Lawrence Charnas, Shannon Marraffino, Brenda Wong

    Publicado 2020
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  13. 13
    Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

    Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry por Ana Nikolić, Giulia Ricci, Francesco Sera, Elisabetta Bucci, Monica Govi, Fabiano Mele, Marta Rossi, Lucia Ruggiero, Liliana Vercelli, Sabrina Ravaglia, Giacomo Brisca, Chiara Fiorillo, Luísa Villa, Lorenzo Maggi, Michelangelo Cao, Maria Chiara D’Amico, Gabriele Siciliano, Giovanni Antonini, Lucio Santoro, Tiziana Mongini, Maurizio Moggio, Lucia Morandi, Elena Pegoraro, C. Angelini, Antonio Di Muzio, Carmelo Rodolico, Giuliano Tomelleri, Maria Grazia D’Angelo, Claudio Bruno, Angela Berardinelli, Rossella Tupler

    Publicado 2016
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  14. 14
    MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

    MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients por Chiara Fiorillo, Guja Astrea, Marco Savarese, Denise Cassandrini, Giacomo Brisca, Federica Trucco, Marina Pedemonte, Rosanna Trovato, Lucia Ruggiero, Liliana Vercelli, Adele D’Amico, Giorgio Tasca, Marika Pane, Francesco Mari, Luca Bello, Paolo Broda, Olimpia Musumeci, Carmelo Rodolico, Sonia Messina, Gian Luca Vita, Maria Sframeli, Sara Gibertini, Lucia Morandi, Marina Mora, Lorenzo Maggi, Antonio Petrucci, Roberto Massa, Marina Grandis, Arianna Toscano, Elena Pegoraro, Eugenio Mercuri, Enrico Bertini, Tiziana Mongini, Lucio Santoro, Vincenzo Nigro, Carlo Minetti, Filippo M. Santorelli, Claudio Bruno

    Publicado 2016
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  15. 15
    Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

    Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea por Stéphanie Bauché, S O’Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Töpf, Emmanuelle Lacène, Ganaëlle Remérand, A. M. Beaufrére, Céline Pebrel‐Richard, Julien Thévenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoît Bœuf, Norma B. Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean‐François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmüller, B. Eymard, M. Mayer, Sophie Nicole

    Publicado 2016
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  16. 16
    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders por Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, H. Luque, Sandra Janssens, Maria Barbara Pasanisi, Chiara Fiorillo, Monika Raimondi, Manuela Ergoli, Luisa Politano, Claudio Bruno, Anna Rubegni, Marika Pane, Filippo M. Santorelli, Carlo Minetti, C. Angelini, Jan De Bleecker, Maurizio Moggio, Tiziana Mongini, Giacomo P. Comi, Lucio Santoro, Eugenio Mercuri, Elena Pegoraro, Marina Mora, Peter Hackman, Bjarne Udd, Vincenzo Nigro

    Publicado 2018
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  17. 17
    Genotype–phenotype correlations in recessive titinopathies

    Genotype–phenotype correlations in recessive titinopathies por Marco Savarese, Anna Vihola, Emily C. Oates, Rita Barresi, Chiara Fiorillo, Giorgio Tasca, Manu Jokela, Anna Sárközy, Sushan Luo, Jordi Díaz‐Manera, Christoffer Ehrstedt, Ricardo Rojas‐García, Amets Sáenz, Nuria Muelas, Fortunato Lonardo, Heidi Fodstad, Talha Qureshi, Mridul Johari, Salla Välipakka, H. Luque, Philippe Petiot, Adolfo López de Munaín, Marika Pane, Eugenio Mercuri, Annalaura Torella, Vincenzo Nigro, Guja Astrea, Filippo M. Santorelli, Claudio Bruno, Thierry Küntzer, Isabel Illa, Juan J. Vílchez, Cédric Julien, Ana Ferreiro, Alessandro Malandrini, Chong-Bo Zhao, Olivera Casar‐Borota, Mark R. Davis, Francesco Muntoni, Peter Hackman, Bjarne Udd

    Publicado 2020
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  18. 18
    Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

    Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis por Payam Mohassel, Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta, A. Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira, Fernando Kok, Alessandro Introna, Giancarlo Logroscino, Christopher Grunseich, Alec R. Nickolls, Naemeh Pourshafie, Sarah Neuhaus, Dimah Saade, Andrea Gangfuß, Heike Kölbel, Zoe Piccus, Claire E. Le Pichon, Chiara Fiorillo, Cindy V. Ly, Ana Töpf, Lauren Brady, Sabine Specht, Aliza Zidell, Hélio Pedro, Eric Mittelmann, Florian P. Thomas, Katherine R. Chao, Chamindra G. Konersman, Megan T. Cho, Tracy Brandt, Volker Straub, Anne M. Connolly, Ulrike Schara, Andreas Roos, Mark A. Tarnopolsky, Ahmet Höke, Robert H. Brown, Chia‐Hsueh Lee, Thorsten Hornemann, Teresa Dunn, Carsten G. Bönnemann

    Publicado 2021
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  19. 19
    Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

    Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study por Angelica D’Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques Lourenço, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Mariarosa Anna Beatrice Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Alessandro Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, António Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo M. Santorelli

    Publicado 2018
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  20. 20
    The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

    The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study por Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Di Mauro, Rita Selvatici, Maria Sofia Falzarano, N. Spedicato, Alice Margutti, Paola Rimessi, F. Fortunato, M. Fabris, Francesca Gualandi, Giacomo P. Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guja Astrea, Filippo M. Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gian Luca Vita, António Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D’Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Alessandra Ferlini

    Publicado 2020
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