Growth patterns in children with spinal muscular atrophy von De Amicis, Ramona, Baranello, Giovanni, Foppiani, Andrea, Leone, Alessandro, Battezzati, Alberto, Bedogni, Giorgio, Ravella, Simone, Giaquinto, Ester, Mastella, Chiara, Agosto, Caterina, Bertini, Enrico, D'Amico, Adele, Pedemonte, Marina, Bruno, Claudio, Wells, Jonathan C, Fewtrell, Mary, Bertoli, Simona

Volltext

Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients von Panicucci, Chiara, Casalini, Sara, Damasio, Beatrice M., Brolatti, Noemi, Pedemonte, Marina, Biolcati Rinaldi, Alessandra, Morando, Simone, Doglio, Luca, Raffaghello, Lizzia, Fiorillo, Chiara, Zara, Federico, Tasca, Giorgio, Bruno, Claudio

Volltext

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy von Papa, Riccardo, MD, Madia, Francesca, PhD, Bartolomeo, Domenico, MD, Trucco, Federica, MD, Pedemonte, Marina, MD, Traverso, Monica, PhD, Broda, Paolo, BS, Bruno, Claudio, MD, Zara, Federico, PhD, Minetti, Carlo, MD, Fiorillo, Chiara, MD, PhD

Volltext

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression von Pescatori, Mario, Broccolini, Aldobrando, Minetti, Carlo, Bertini, Enrico, Bruno, Claudio, D'amico, Adele, Bernardini, Camilla, Mirabella, Massimiliano, Silvestri, Gabriella, Giglio, Vincenzo, Modoni, Anna, Pedemonte, Marina, Tasca, Giorgio, Galluzzi, Giuliana, Mercuri, Eugenio, Tonali, Pietro A, Ricci, Enzo

Volltext

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders von Borgia, Paola, Baldassari, Simona, Pedemonte, Nicoletta, Alkhunaizi, Ebba, D'Onofrio, Gianluca, Tortora, Domenico, Calì, Elisa, Scudieri, Paolo, Balagura, Ganna, Musante, Ilaria, Diana, Maria Cristina, Pedemonte, Marina, Vari, Maria Stella, Iacomino, Michele, Riva, Antonella, Chimenz, Roberto, Mangano, Giuseppe D, Mohammadi, Mohammad Hasan, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Accogli, Andrea, Schiaffino, Maria Cristina, Maghnie, Mohamad, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K, Striano, Pasquale, Fortuna, Sara, Maroofian, Reza, Houlden, Henry, Zara, Federico, Fiorillo, Chiara, Salpietro, Vincenzo

Volltext

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy von Pane, Marika, Mazzone, Elena S, Fanelli, Lavinia, De Sanctis, Roberto, Bianco, Flaviana, Sivo, Serena, D’Amico, Adele, Messina, Sonia, Battini, Roberta, Scutifero, Marianna, Petillo, Roberta, Frosini, Silvia, Scalise, Roberta, Vita, Gianluca, Bruno, Claudio, Pedemonte, Marina, Mongini, Tiziana, Pegoraro, Elena, Brustia, Francesca, Gardani, Alice, Berardinelli, Angela, Lanzillotta, Valentina, Viggiano, Emanuela, Cavallaro, Filippo, Sframeli, Maria, Bello, Luca, Barp, Andrea, Bonfiglio, Serena, Rolle, Enrica, Colia, Giulia, Catteruccia, Michela, Palermo, Concetta, D’Angelo, Grazia, Pini, Antonella, Iotti, Elena, Gorni, Ksenija, Baranello, Giovanni, Morandi, Lucia, Bertini, Enrico, Politano, Luisa, Sormani, MariaPia, Mercuri, Eugenio

Volltext

Type I SMA “new natural history”: long‐term data in nusinersen‐treated patients von Pane, Marika, Coratti, Giorgia, Sansone, Valeria A., Messina, Sonia, Catteruccia, Michela, Bruno, Claudio, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D’Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Palermo, Concetta, Leone, Daniela, Brigati, Giorgia, Tacchetti, Paola, Salmin, Francesca, De Sanctis, Roberto, Lucibello, Simona, Pera, Maria Carmela, Piastra, Marco, Genovese, Orazio, Bertini, Enrico, Vita, Gianluca, Tiziano, Francesco Danilo, Mercuri, Eugenio

Volltext

Nusinersen efficacy data for 24‐month in type 2 and 3 spinal muscular atrophy von Pane, Marika, Coratti, Giorgia, Pera, Maria Carmela, Sansone, Valeria A., Messina, Sonia, d'Amico, Adele, Bruno, Claudio, Salmin, Francesca, Albamonte, Emilio, De Sanctis, Roberto, Sframeli, Maria, Di Bella, Vincenzo, Morando, Simone, Palermo, Concetta, Frongia, Anna Lia, Antonaci, Laura, Capasso, Anna, Catteruccia, Michela, Longo, Antonella, Ricci, Martina, Cutrona, Costanza, Pirola, Alice, Bravetti, Chiara, Pedemonte, Marina, Brolatti, Noemi, Bertini, Enrico, Mercuri, Eugenio

Volltext

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

Volltext

The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome von 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

Volltext

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

Volltext

Clinical and molecular consequences of exon 78 deletion in DMD gene von Traverso, Monica, Assereto, Stefania, Baratto, Serena, Iacomino, Michele, Pedemonte, Marina, Diana, Maria Cristina, Ferretti, Marta, Broda, Paolo, Minetti, Carlo, Gazzerro, Elisabetta, Madia, Francesca, Bruno, Claudio, Zara, Federico, Fiorillo, Chiara

Volltext

Respiratory pattern in a FSDH paediatric population von Trucco, Federica, M.D, Pedemonte, Marina, M.D., PhD, Fiorillo, Chiara, M.D., PhD, Tacchetti, Paola, Brisca, Giacomo, M.D, Bruno, Claudio, M.D., PhD, Minetti, Carlo, M.D., PhD

Volltext

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement von Biancheri, Roberta, Cassandrini, Denise, Pinto, Francesca, Trovato, Rosanna, Di Rocco, Maja, Mirabelli-Badenier, Marisol, Pedemonte, Marina, Panicucci, Chiara, Trucks, Holger, Sander, Thomas, Zara, Federico, Rossi, Andrea, Striano, Pasquale, Minetti, Carlo, Santorelli, Filippo Maria

Volltext

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel von 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

Volltext

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract von Zara, Federico, Minetti, Carlo, Biancheri, Roberta, Bruno, Claudio, Bordo, Laura, Assereto, Stefania, Gazzerro, Elisabetta, Sotgia, Federica, Wang, Xiao Bo, Gianotti, Stefania, Stringara, Silvia, Pedemonte, Marina, Uziel, Graziella, Rossi, Andrea, Schenone, Angelo, Tortori-Donati, Paolo, van der Knaap, Marjo S, Lisanti, Michael P

Volltext

The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure von Giunta, Cecilia, Chambaz, Céline, Pedemonte, Marina, Scapolan, Sara, Steinmann, Beat

Volltext

Transgenic Overexpression of Caveolin-3 in Skeletal Muscle Fibers Induces a Duchenne-Like Muscular Dystrophy Phenotype von Galbiati, Ferruccio, Volonte, Daniela, Chu, Jeffrey B., Li, Maomi, Fine, Samson W., Fu, Maofu, Bermudez, Jorge, Pedemonte, Marina, Weidenheim, Karen M., Pestell, Richard G., Minetti, Carlo, Lisanti, Michael P.

Volltext

Bone Health Determinants in Ambulant Prepubertal Boys With Duchenne Muscular Dystrophy Treated With Deflazacort: Findings From a 3-Year Study von Panicucci, Chiara, Casalini, Sara, Angelelli, Alessia, Brolatti, Noemi, Pedemonte, Marina, Patti, Giuseppa, Maghnie, Mohamad, Bruno, Claudio, Di Iorgi, Natascia

Volltext

Nusinersen in type 1 spinal muscular atrophy: Twelve‐month real‐world data von Pane, Marika, Coratti, Giorgia, Sansone, Valeria A., Messina, Sonia, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Brigati, Giorgia, Tacchetti, Paola, Salmin, Francesca, de Sanctis, Roberto, Lucibello, Simona, Piastra, Marco, Genovese, Orazio, Bertini, Enrico, Vita, Giuseppe, Tiziano, Francesco Danilo, Mercuri, Eugenio

Volltext