A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing
Marinella, Gemma, Astrea, Guja, Buchignani, Bianca, Cassandrini, Denise, Doccini, Stefano, Filosto, Massimiliano, Galatolo, Daniele, Gallone, Salvatore, Giannini, Fabio, Lopergolo, Diego, Maioli, Maria Antonietta, Magri, Francesca, Malandrini, Alessandro, Mandich, Paola, Mari, Francesco, Massa, Roberto, Mata, Sabrina, Melani, Federico, Moggio, Maurizio, Mongini, Tiziana E, Pasquariello, Rosa, Pegoraro, Elena, Ricci, Federica, Ricci, Giulia, Rodolico, Carmelo, Rubegni, Anna, Siciliano, Gabriele, Sperti, Martina, Ticci, Chiara, Tonin, Paola, Santorelli, Filippo M, Battini, Roberta
Published in International journal of molecular sciences (23.11.2022)
Published in International journal of molecular sciences (23.11.2022)
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Journal Article
Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study
Ricci, Federica S., D’Alessandro, Rossella, Vacchetti, Martina, Salvalaggio, Anna, Somà, Alessandra, Daffunchio, Giorgia, Spada, Marco, Turra, Renato, Bobbio, Marisa, Ciuti, Alessandro, Davico, Chiara, Vitiello, Benedetto, Mongini, Tiziana E.
Published in Children (Basel) (17.07.2022)
Published in Children (Basel) (17.07.2022)
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Journal Article
Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review
Brusa, Chiara, Gadaleta, Giulio, D'Alessandro, Rossella, Urbano, Guido, Vacchetti, Martina, Davico, Chiara, Vitiello, Benedetto, Ricci, Federica S, Mongini, Tiziana E
Published in Brain sciences (28.01.2022)
Published in Brain sciences (28.01.2022)
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Journal Article
Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD)
Parisi, Daniela, Musumeci, Olimpia, Mondello, Stefania, Brizzi, Teresa, Oteri, Rosaria, Migliorato, Alba, Ciranni, Annamaria, Mongini, Tiziana E, Rodolico, Carmelo, Vita, Giuseppe, Toscano, Antonio
Published in Frontiers in neurology (22.10.2018)
Published in Frontiers in neurology (22.10.2018)
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Journal Article
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Guglieri, Michela, Bushby, Kate, McDermott, Michael P, Hart, Kimberly A, Tawil, Rabi, Martens, William B, Herr, Barbara E, McColl, Elaine, Speed, Chris, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M, Eagle, Michelle, Brown, Mary W, Willis, Tracey, Griggs, Robert C, Straub, Volker, van Ruiten, Henriette, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B, Spinty, Stefan, Maggi, Lorenzo, Baranello, Giovanni, Butterfield, Russell J, Horrocks, I. A, Roper, Helen, Alhaswani, Zoya, Flanigan, Kevin M, Kuntz, Nancy L, Manzur, Adnan, Darras, Basil T, Kang, Peter B, Morrison, Leslie, Krzesniak-Swinarska, Monika, Mah, Jean K, Mongini, Tiziana E, Ricci, Federica, von der Hagen, Maja, Finkel, Richard S, O’Reardon, Kathleen, Wicklund, Matthew, Kumar, Ashutosh, McDonald, Craig M, Han, Jay J, Joyce, Nanette, Henricson, Erik K, Schara-Schmidt, Ulrike, Gangfuss, Andrea, Wilichowski, Ekkehard, Barohn, Richard J, Statland, Jeffrey M, Campbell, Craig, Vita, Giuseppe, Vita, Gian Luca, Howard, James F, Hughes, Imelda, McMillan, Hugh J, Pegoraro, Elena, Bello, Luca, Burnette, W. Bryan, Thangarajh, Mathula, Chang, Taeun
Published in JAMA : the journal of the American Medical Association (19.04.2022)
Published in JAMA : the journal of the American Medical Association (19.04.2022)
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Journal Article
Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade
Gadaleta, Giulio, Urbano, Guido, Brusa, Chiara, D'Alessandro, Rossella, Rolle, Enrica, Cavallina, Ilaria, Mattei, Alessio, Ribolla, Fulvia, Raineri, Claudia, Pidello, Stefano, Vercelli, Liliana, Ricci, Federica S., Mongini, Tiziana E.
Published in European journal of neurology (01.01.2024)
Published in European journal of neurology (01.01.2024)
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Journal Article
Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy type 1
Ricci, Federica S., Vacchetti, Martina, Brusa, Chiara, D'Alessandro, Rossella, La Rosa, Paola, Martone, Gianluca, Davico, Chiara, Vitiello, Benedetto, Mongini, Tiziana E.
Published in European journal of paediatric neurology (01.07.2022)
Published in European journal of paediatric neurology (01.07.2022)
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Journal Article
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy
Peretto, Giovanni, Di Resta, Chiara, Perversi, Jacopo, Forleo, Cinzia, Maggi, Lorenzo, Politano, Luisa, Barison, Andrea, Previtali, Stefano C, Carboni, Nicola, Brun, Francesca, Pegoraro, Elena, D'Amico, Adele, Rodolico, Carmelo, Magri, Francesca, Manzi, Rosa C, Palladino, Alberto, Isola, Franco, Gigli, Lorenzo, Mongini, Tiziana E, Semplicini, Claudio, Calore, Chiara, Ricci, Giulia, Comi, Giacomo P, Ruggiero, Lucia, Bertini, Enrico, Bonomo, Paolo, Nigro, Gerardo, Resta, Nicoletta, Emdin, Michele, Favale, Stefano, Siciliano, Gabriele, Santoro, Lucio, Sinagra, Gianfranco, Limongelli, Giuseppe, Ambrosi, Alessandro, Ferrari, Maurizio, Golzio, Pier G, Bella, Paolo Della, Benedetti, Sara, Sala, Simone
Published in Annals of internal medicine (01.10.2019)
Published in Annals of internal medicine (01.10.2019)
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’Donnell-Luria, Anne, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, Straub, Volker
Published in Nature genetics (01.03.2024)
Published in Nature genetics (01.03.2024)
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Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network
Bortolani, Sara, Savarese, Marco, Vattemi, Gaetano, Bonanno, Silvia, Falzone, Yuri M, Pugliese, Alessia, Primiano, Guido, Sancricca, Cristina, Lopergolo, Diego, Greco, Giulia, Gemelli, Chiara, Ravaglia, Sabrina, Bencivenga, Roberta P, Velardo, Daniele, Magri, Francesca, Valentino, Maria L, Cheli, Marta, Torchia, Eleonora, Lucchini, Matteo, Petrucci, Antonio, Ricci, Giulia, Garibaldi, Matteo, Astrea, Guja, Rubegni, Anna, Angelini, Corrado I, Ariatti, Alessandra, Santorelli, Filippo M, Ruggieri, Alessandra, Antonini, Giovanni, Siciliano, Gabriele, Filosto, Massimiliano, Mirabella, Massimiliano, Liguori, Rocco, Comi, Giacomo P, Ruggiero, Lucia, Grandis, Marina, Massa, Roberto, Malandrini, Alessandro, Servidei, Serenella, Mongini, Tiziana E, Rodolico, Carmelo, Toscano, Antonio, Previtali, Stefano C, Tonin, Paola, Diaz-Manera, Jordi, Monforte, Mauro, Ricci, Enzo, Maggi, Lorenzo, Tasca, Giorgio
Published in Neurology (27.08.2024)
Published in Neurology (27.08.2024)
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Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy
Ricci, Federica Silvia, Stanga, Serena, Mezzanotte, Mariarosa, Marinaccio, Cristina, D'Alessandro, Rossella, Somà, Alessandra, Sottemano, Stefano, Conio, Alessandra, Morana, Giovanni, Spada, Marco, Boido, Marina, Mongini, Tiziana E.
Published in JIMD reports (01.01.2024)
Published in JIMD reports (01.01.2024)
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Journal Article
A man with fever and bilateral limb weakness
Bernardi, Sara, Gargiulo, Giuseppe, Gruden, Gabriella, Ponzalino, Valentina, Bortolani, Sara, Mongini, Tiziana E., Papa, Claudia, Rolla, Giovanni, Cavallo Perin, Paolo
Published in Internal and emergency medicine (01.09.2020)
Published in Internal and emergency medicine (01.09.2020)
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Juvenile Myasthenia Gravis in a 14-year-old adolescent masked by mood disorder: the complex balance between neurology and psychiatry
D’Alessandro, Rossella, Salvalaggio, Anna, Vacchetti, Martina, Mongini, Tiziana E., Ricci, Federica S.
Published in Acta myologica (30.09.2022)
Published in Acta myologica (30.09.2022)
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Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: A multicentre observational follow-up study of the European Pompe Consortium
Ditters, Imke A.M., Huidekoper, Hidde H., Kruijshaar, Michelle E., Rizopoulos, Dimitris, Hahn, Andreas, Mongini, Tiziana E., Labarthe, François, Tardieu, Marine, Chabrol, Brigitte, Brassier, Anaïs, Parini, Rossella, Parenti, Giancarlo, van der Beek, Nadine A.M.E., van der Ploeg, Ans T., van den Hout, Hannerieke
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article
Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy
Schiava, Marianela, Amos, Rachel, VanRuiten, Henriette, McDermott, Michael P, Martens, Williams B, Gregory, Stephanie, Mayhew, Anna, McColl, Elaine, Tawil, Rabi, Willis, Tracey, Bushby, Kate, Griggs, Robert C, Guglieri, Michela
Published in Neurology (25.01.2022)
Published in Neurology (25.01.2022)
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