Výsledky vyhledávání - Guja Astrea

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

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

    Vydáno 2017
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  2. 2
    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 Autor 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

    Vydáno 2013
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  3. 3
    Next-generation sequencing approach to hyperCKemia

    Next-generation sequencing approach to hyperCKemia Autor Anna Rubegni, Alessandro Malandrini, Claudia Dosi, Guja Astrea, Jacopo Baldacci, Carla Battisti, Giulia Bertocci, Maria Alice Donati, Maria Teresa Dotti, Antonio Federico, Fabio Giannini, Salvatore Grosso, Renzo Guerrini, Sara Lenzi, Maria Antonietta Maioli, Federico Melani, Eugenio Mercuri, Michele Sacchini, Simona Salvatore, Gabriele Siciliano, Deborah Tolomeo, Paola Tonin, Nila Volpi, Filippo M. Santorelli, Denise Cassandrini

    Vydáno 2019
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  4. 4
    Burden, professional support, and social network in families of children and young adults with muscular dystrophies

    Burden, professional support, and social network in families of children and young adults with muscular dystrophies Autor Lorenza Magliano, Melania Patalano, Alessandra Sagliocchi, Marianna Scutifero, Antonella Zaccaro, Maria Grazia D’Angelo, Federica Civati, Erika Brighina, Giuseppe Vita, Gian Luca Vita, Sonia Messina, Maria Sframeli, Marika Pane, Maria Elena Lombardo, Roberta Scalise, Adele D’Amico, Giulia Colia, Michela Catteruccia, Umberto Balottin, Angela Berardinelli, Maria Chiara Motta, C. Angelini, Alessandra Gaiani, Claudio Semplicini, Luca Bello, Roberta Battini, Guja Astrea, Luisa Politano

    Vydáno 2014
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  5. 5
    Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs

    Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs Autor Lorenza, Magliano, Marianna, Scutifero, Melania, Patalano, Alessandra, Sagliocchi, Antonella, Zaccaro, Federica, Civati, Erika, Brighina, Gianluca, Vita, Sonia, Messina, Maria, Sframeli, Maria_Elena, Lombardo, Roberta, Scalise, Giulia, Colia, Maria, Catteruccia, Angela, Berardinelli, Maria_Chiara, Motta, Alessandra, Gaiani, Claudio, Semplicini, Luca, Bello, Guja, Astrea, Giulia, Ricci, Maria_Grazia, D'Angelo, Giuseppe, Vita, Marika, Pane, Adele, D'Amico, Umberto, Balottin, Corrado, Angelini, Roberta, Battini, Luisa, Politano

    Vydáno 2017
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  6. 6
    Prevalence of congenital muscular dystrophy in Italy

    Prevalence of congenital muscular dystrophy in Italy Autor Alessandra Graziano, Flaviana Bianco, Adele D’Amico, Isabella Moroni, Sonia Messina, Claudio Bruno, Elena Pegoraro, Marina Mora, Guja Astrea, Francesca Magri, Giacomo P. Comi, Angela Berardinelli, Maurizio Moggio, Lucia Morandi, Antonella Pini, Roberta Petillo, Giorgio Tasca, Mauro Monforte, Carlo Minetti, Tiziana Mongini, Enzo Ricci, Ksenija Gorni, Roberta Battini, Marcello Villanova, Luisa Politano, Francesca Gualandi, Alessandra Ferlini, Francesco Muntoni, Filippo M. Santorelli, Enrico Bertini, Marika Pane, Eugenio Mercuri

    Vydáno 2015
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  7. 7
    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 Autor 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

    Vydáno 2016
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  8. 8
    Importance of <i>SPP1</i> genotype as a covariate in clinical trials in Duchenne muscular dystrophy

    Importance of <i>SPP1</i> genotype as a covariate in clinical trials in Duchenne muscular dystrophy Autor Luca Bello, Luisa Piva, Andrea Barp, Antonella Taglia, Esther Picillo, Gessica Vasco, Marika Pane, Stefano C. Previtali, Yvan Torrente, Elisabetta Gazzerro, Maria Chiara Motta, Gaetano S. Grieco, Sara Napolitano, Francesca Magri, Adele D’Amico, Guja Astrea, Sonia Messina, Maria Sframeli, Gian Luca Vita, P Boffi, Tiziana Mongini, Alessandra Ferlini, Francesca Gualandi, Gianni Sorarù, Mario Ermani, Giuseppe Vita, Roberta Battini, Enrico Bertini, Giacomo P. Comi, Angela Berardinelli, Carlo Minetti, Claudio Bruno, Eugenio Mercuri, Luisa Politano, C. Angelini, Eric P. Hoffman, Elena Pegoraro

    Vydáno 2012
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  9. 9
    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 Autor 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

    Vydáno 2016
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  10. 10
    Genetic modifiers of respiratory function in Duchenne muscular dystrophy

    Genetic modifiers of respiratory function in Duchenne muscular dystrophy Autor Luca Bello, Maria Grazia D’Angelo, Matteo Villa, Aurora Fusto, Sara Vianello, Beatrice Merlo, Daniele Sabbatini, Andrea Barp, S. Gandossini, Francesca Magri, Giacomo P. Comi, Marina Pedemonte, Paola Tacchetti, Valentina Lanzillotta, Federica Trucco, Adele D’Amico, Enrico Bertini, Guja Astrea, Luisa Politano, Riccardo Masson, Giovanni Baranello, Emilio Albamonte, Elisa De Mattia, Fabrizio Rao, Valeria Sansone, Stefano C. Previtali, Sonia Messina, Gian Luca Vita, Angela Berardinelli, Tiziana Mongini, Antonella Pini, Marika Pane, Eugenio Mercuri, Andrea Vianello, Claudio Bruno, Eric P. Hoffman, Lauren P. Morgenroth, Heather Gordish‐Dressman, Craig M. McDonald, Elena Pegoraro

    Vydáno 2020
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  11. 11
    Genotype–phenotype correlations in recessive titinopathies

    Genotype–phenotype correlations in recessive titinopathies Autor 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

    Vydáno 2020
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  12. 12
    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 Autor 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

    Vydáno 2018
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  13. 13
    The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

    The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study Autor 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

    Vydáno 2020
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  14. 14
    The genetic basis of undiagnosed muscular dystrophies and myopathies

    The genetic basis of undiagnosed muscular dystrophies and myopathies Autor Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella, Chiara Fiorillo, Francesca Magri, Francesco Mari, Lucia Ruggiero, Giulia Ricci, Guja Astrea, Luigia Passamano, Alessandra Ruggieri, Dario Ronchi, Giorgio Tasca, Adele D’Amico, Sandra Janssens, Olimpia Farina, Margherita Mutarelli, Veer Singh Marwah, Arcomaria Garofalo, Teresa Giugliano, Simone Sanpaolo, Francesca Del Vecchio Blanco, Gaia Esposito, Giulio Piluso, Paola D’Ambrosio, Roberta Petillo, Olimpia Musumeci, Carmelo Rodolico, Sonia Messina, Anni Evilä, Peter Hackman, Massimiliano Filosto, Giuseppe Di Iorio, Gabriele Siciliano, Marina Mora, Lorenzo Maggi, Carlo Minetti, Sabrina Sacconi, Lucio Santoro, Kathleen Claes, Liliana Vercelli, Tiziana Mongini, Enzo Ricci, Francesca Gualandi, Rossella Tupler, Jan De Bleecker, Bjarne Udd, António Toscano, Maurizio Moggio, Elena Pegoraro, Enrico Bertini, Eugenio Mercuri, C. Angelini, Filippo M. Santorelli, Luisa Politano, Claudio Bruno, Giacomo P. Comi, Vincenzo Nigro

    Vydáno 2016
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  15. 15
    Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE

    Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE Autor Ganna Balagura, Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev, Loreto Ríos, Deepa Sirsi, Patrizia Accorsi, Elisabetta Amadori, Guja Astrea, Sımona Baldassari, Francesca Beccaria, Antonella Boni, M Budetta, Gaetano Cantalupo, Giuseppe Capovilla, Elisabetta Cesaroni, Valentina Chiesa, Antonietta Coppola, Robertino Dilena, Raffaella Faggioli, Anna Rita Ferrari, Elena Fiorini, Francesca Madia, Elena Di Gennaro, Thea Giacomini, Lucio Giordano, Michele Iacomino, Simona Lattanzi, Carla Marini, Maria Margherita Mancardi, Massimo Mastrangelo, Tullio Messana, Carlo Minetti, Lino Nobili, Amanda Papa, Antonia Parmeggiani, Tiziana Pisano, Angelo Russo, Vincenzo Salpietro, Salvatore Savasta, Marcello Scala, Andrea Accogli, Barbara Scelsa, Paolo Scudieri, Alberto Spalice, Nicola Specchio, Marina Trivisano, Michal Tzadok, Massimiliano Valeriani, Maria Stella Vari, Alberto Verrotti, Federico Vigevano, Aglaia Vignoli, Ruud F. Toonen, Federico Zara, Ingo Helbig, Pasquale Striano

    Vydáno 2022
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