Resultados da busca - Fiorillo, Chiara

New phenotype caused by POMGNT2 mutations por Cassone, Marco, Fiorillo, Chiara, Zara, Federico, Vitali, Carlo

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Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders por Baldacci, Jacopo, Calderisi, Marco, Fiorillo, Chiara, Santorelli, Filippo Maria, Rubegni, Anna

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Detection of early nocturnal hypoventilation in neuromuscular disorders por Trucco, Federica, Pedemonte, Marina, Fiorillo, Chiara, Tan, Hui-leng, Carlucci, Annalisa, Brisca, Giacomo, Tacchetti, Paola, Bruno, Claudio, Minetti, Carlo

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

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Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation por Minoia, Francesca, Bertamino, Marta, Picco, Paolo, Severino, Mariasavina, Rossi, Andrea, Fiorillo, Chiara, Minetti, Carlo, Nesti, Claudia, Santorelli, Filippo Maria, Di Rocco, Maja

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Novel TRIM32 mutation in sarcotubular myopathy por PANICUCCI, CHIARA, TRAVERSO, MONICA, BARATTO, SERENA, ROMEO, CHIARA, IACOMINO, MICHELE, GEMELLI, CHIARA, TAGLIAFICO, ALBERTO, BRODA, PAOLO, ZARA, FEDERICO, BRUNO, CLAUDIO, MINETTI, CARLO, FIORILLO, CHIARA

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Mutations in GMPPB Presenting with Pseudometabolic Myopathy por Panicucci, Chiara, Fiorillo, Chiara, Moro, Francesca, Astrea, Guja, Brisca, Giacomo, Trucco, Federica, Pedemonte, Marina, Lanteri, Paola, Sciarretta, Lucia, Minetti, Carlo, Santorelli, Filippo M., Bruno, Claudio

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Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 M... por Biancheri, Roberta, Lamantea, Eleonora, Severino, Mariasavina, Diodato, Daria, Pedemonte, Marina, Cassandrini, Denise, Ploederl, Alexandra, Trucco, Federica, Fiorillo, Chiara, Minetti, Carlo, Santorelli, Filippo M., Zeviani, Massimo, Bruno, Claudio

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Novel dynein DYNC1H1 neck and motor domain mutations link distal SMA and abnormal cortical development por Fiorillo, Chiara, Moro, Francesca, Yi, Julie, Weil, Sarah, Brisca, Giacomo, Astrea, Guja, Severino, Mariasavina, Romano, Alessandro, Battini, Roberta, Rossi, Andrea, Minetti, Carlo, Bruno, Claudio, Santorelli, Filippo M., Vallee, Richard

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Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report por Piccolo, Gianluca, d'Annunzio, Giuseppe, Amadori, Elisabetta, Riva, Antonella, Borgia, Paola, Tortora, Domenico, Maghnie, Mohamad, Minetti, Carlo, Gitto, Eloisa, Iacomino, Michele, Baldassari, Simona, Fiorillo, Chiara, Zara, Federico, Striano, Pasquale, Salpietro, Vincenzo

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

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Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity por Murdocca, Michela, Spitalieri, Paola, De Masi, Claudia, Udroiu, Ion, Marinaccio, Jessica, Sanchez, Massimo, Talarico, Rosa Valentina, Fiorillo, Chiara, D’Adamo, Monica, Sbraccia, Paolo, D’Apice, Maria Rosaria, Novelli, Giuseppe, Sgura, Antonella, Sangiuolo, Federica

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Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel por Imbrici, Paola, Accogli, Andrea, Blunck, Rikard, Altamura, Concetta, Iacomino, Michele, D’Adamo, Maria Cristina, Allegri, Anna, Pedemonte, Marina, Brolatti, Noemi, Vari, Stella, Cataldi, Matteo, Capra, Valeria, Gustincich, Stefano, Zara, Federico, Desaphy, Jean-Francois, Fiorillo, Chiara

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The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome por Veneruso, Marco, Fiorillo, Chiara, Broda, Paolo, Baratto, Serena, Traverso, Monica, Donati, Alice, Savasta, Salvatore, Falsaperla, Raffaele, Mancardi, Maria Margherita, Pedemonte, Marina, Panicucci, Chiara, Piatelli, Gianluca, Pacetti, Mattia, Moscatelli, Andrea, Ramenghi, Luca Antonio, Nobili, Lino, Minetti, Carlo, Bruno, Claudio

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

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Muscle MRI in neutral lipid storage disease (NLSD) por Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D’Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, Pennisi, Elena Maria

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Erratum to: Muscle MRI in neutral lipid storage disease (NLSD) por Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D’Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, Pennisi, Elena Maria

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Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers por Savarese, Marco, Musumeci, Olimpia, Giugliano, Teresa, Rubegni, Anna, Fiorillo, Chiara, Fattori, Fabiana, Torella, Annalaura, Battini, Roberta, Rodolico, Carmelo, Pugliese, Aniello, Piluso, Giulio, Maggi, Lorenzo, D'Amico, Adele, Bruno, Claudio, Bertini, Enrico, Santorelli, Filippo Maria, Mora, Marina, Toscano, Antonio, Minetti, Carlo, Nigro, Vincenzo

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An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia por Gemelli, Chiara, Traverso, Monica, Trevisan, Lucia, Fabbri, Sabrina, Scarsi, Elena, Carlini, Barbara, Prada, Valeria, Mongini, Tiziana, Ruggiero, Lucia, Patrone, Serena, Gallone, Salvatore, Iodice, Rosa, Pisciotta, Livia, Zara, Federico, Origone, Paola, Rota, Eugenia, Minetti, Carlo, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Fiorillo, Chiara, Grandis, Marina

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

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