A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing von 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

Volltext

Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study von 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.

Volltext

Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review von Brusa, Chiara, Gadaleta, Giulio, D'Alessandro, Rossella, Urbano, Guido, Vacchetti, Martina, Davico, Chiara, Vitiello, Benedetto, Ricci, Federica S, Mongini, Tiziana E

Volltext

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) von Parisi, Daniela, Musumeci, Olimpia, Mondello, Stefania, Brizzi, Teresa, Oteri, Rosaria, Migliorato, Alba, Ciranni, Annamaria, Mongini, Tiziana E, Rodolico, Carmelo, Vita, Giuseppe, Toscano, Antonio

Volltext

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial von 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

Volltext

Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade von 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.

Volltext

Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy type 1 von Ricci, Federica S., Vacchetti, Martina, Brusa, Chiara, D'Alessandro, Rossella, La Rosa, Paola, Martone, Gianluca, Davico, Chiara, Vitiello, Benedetto, Mongini, Tiziana E.

Volltext

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy von 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

Volltext

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network von 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

Volltext

Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy von 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.

Volltext

A man with fever and bilateral limb weakness von Bernardi, Sara, Gargiulo, Giuseppe, Gruden, Gabriella, Ponzalino, Valentina, Bortolani, Sara, Mongini, Tiziana E., Papa, Claudia, Rolla, Giovanni, Cavallo Perin, Paolo

Volltext

Cord blood, perinatal BNP values in term and preterm newborns von Mannarino, S, Garofoli, F, Cerbo, R M, Perotti, G, Mongini, E, Codazzi, C, Ciardelli, L, Tinelli, C, DeSilvestri, A, Stronah, M

Volltext

Juvenile Myasthenia Gravis in a 14-year-old adolescent masked by mood disorder: the complex balance between neurology and psychiatry von D’Alessandro, Rossella, Salvalaggio, Anna, Vacchetti, Martina, Mongini, Tiziana E., Ricci, Federica S.

Volltext

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillar and Distal Myopathies: Experience From the Italian Network

Volltext

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillar and Distal Myopathies: Experience From the Italian Network von 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

Volltext

Variation of B-type natriuretic peptide concentrations and intrauterine growth restriction: mother, fetus and newborn von Garofoli, F, Mannarino, S, Montanari, L, Cerbo, R, Tzialla, C, Mazzucchelli, I, Angelini, M, Codazzi, A C, Mongini, M E, Manzoni, P, Tinelli, C, Spinillo, A, Stronati, M

Volltext

Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity von Gorgoglione, Domenico, Sabbatini, Daniele, Riguzzi, Pietro, Capece, Giuliana, Pane, Marika, Servidei, Serenella, Briganti, Marta, Sancricca, Cristina, Bruschi, Fabio, Ardissone, Anna, Masson, Riccardo, Gallone, Annamaria, Maggi, Lorenzo, Picillo, Esther, Politano, Luisa, Petrosino, Angela, Vianello, Sara, Penzo, Martina, Villa, Matteo, Sframeli, Maria, Allegra, Cosimo, Barp, Andrea, Di Bari, Alessandra, Salmin, Francesca, Albamonte, Emilio, Colacicco, Giovanni, Panicucci, Chiara, Traverso, Monica, Palermo, Concetta, Lerario, Alberto, Velardo, Daniele, D'Angelo, Maria G, Berardinelli, Angela, Gardani, Alice, Nicotra, Roberta, Parravicini, Stefano, Siciliano, Gabriele, Ricci, Giulia, Torri, Francesca, Gadaleta, Giulio, Urbano, Guido, Rolle, Enrica, Ricci, Federica, D'Amico, Adele, Catteruccia, Michela, Pini, Antonella, Giannotta, Melania, Battini, Roberta, Marinella, Gemma, Previtali, Stefano C, Zambon, Alberto A, Ferlini, Alessandra, Fortunato, Fernanda, Magri, Francesca, Mongini, Tiziana E, Sansone, Valeria A, Bruno, Claudio, Messina, Sonia, Nigro, Vincenzo, Moroni, Isabella, Mercuri, Eugenio, Bello, Luca, Pegoraro, Elena

Volltext

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy von Toepf, 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, Boennemann, 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, Xaviere, Loescher, Wolfgang N, Malfatti, Edoardo, Manzur, Adnan, Marti, Pilar, Mongini, Tiziana E, Muelas, Nuria, Nishikawa, Atsuko, O'Donnell-Luria, Anne, Ogonuki, Narumi, O'Grady, Gina L, O'Heir, Emily, Paquay, Stephanie, 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

Volltext

Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy von 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

Volltext

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 Po... von 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

Volltext