Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications

por Mercuri, Eugenio, Pane, Marika, Cicala, Gianpaolo, Brogna, Claudia, Ciafaloni, Emma
Publicado 2023

Muscle-MRI and Functional Levels for the Evaluation of Upper Limbs in Duchenne Muscular Dystrophy: A Critical Review of the Literature

por Cristiano, Lara, Brogna, Claudia, Tasca, Giorgio, Verdolotti, Tommaso, Pane, Marika, Mercuri, Eugenio
Publicado 2022

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

por Ricotti, Valeria, Ridout, Deborah A, Pane, Marika, Main, Marion, Mayhew, Anna, Mercuri, Eugenio, Manzur, Adnan Y, Muntoni, Francesco
Publicado 2016

Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact

por Orso, Massimiliano, Migliore, Antonio, Polistena, Barbara, Russo, Eleonora, Gatto, Francesca, Monterubbianesi, Mauro, d’Angela, Daniela, Spandonaro, Federico, Pane, Marika
Publicado 2023

Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study

por Chieffo, Daniela, Brogna, Claudia, Berardinelli, Angela, D’Angelo, Grazia, Mallardi, Maria, D’Amico, Adele, Alfieri, Paolo, Mercuri, Eugenio, Pane, Marika
Publicado 2015

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy

por Bosco, Luca, Leone, Daniela, Costa Comellas, Laura, Monforte, Mauro, Pane, Marika, Mercuri, Eugenio, Bertini, Enrico, D’Amico, Adele, Fattori, Fabiana
Publicado 2022

Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study

por MAGLIANO, LORENZA, D'ANGELO, MARIA GRAZIA, VITA, GIUSEPPE, PANE, MARIKA, D'AMICO, ADELE, BALOTTIN, UMBERTO, ANGELINI, CORRADO, BATTINI, ROBERTA, POLITANO, LUISA
Publicado 2014

Pediatric Motor Inflammatory Neuropathy: The Role of Antiphospholipid Antibodies

por Brogna, Claudia, Luigetti, Marco, Norcia, Giulia, Scalise, Roberta, Ferrantini, Gloria, Berti, Beatrice, Romeo, Domenico M., Manna, Raffaele, Mercuri, Eugenio, Pane, Marika
Publicado 2020

Reply to: The need for evidence‐based treatment decisions in spinal muscular atrophy type 0

por Mercuri, Eugenio, Tiberi, Eloisa, Costa, Simonetta, Pane, Marika, Priolo, Francesca, Romeo, Domenico, de Sanctis, Roberto, Tiziano, Danilo, Conti, Giorgio, Vento, Giovanni
Publicado 2021

Nusinersen in type 0 spinal muscular atrophy: should we treat?

por Tiberi, Eloisa, Costa, Simonetta, Pane, Marika, Priolo, Francesca, de Sanctis, Roberto, Romeo, Domenico, Tiziano, Francesco D., Conti, Giorgio, Vento, Giovanni, Mercuri, Eugenio
Publicado 2020

Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis

por Coratti, Giorgia, Cutrona, Costanza, Pera, Maria Carmela, Bovis, Francesca, Ponzano, Marta, Chieppa, Fabrizia, Antonaci, Laura, Sansone, Valeria, Finkel, Richard, Pane, Marika, Mercuri, Eugenio
Publicado 2021

Caregivers’ Expectations on Possible Functional Changes following Disease-Modifying Treatment in Type II and III Spinal Muscular Atrophy: A Comparative Study

por Pera, Maria Carmela, Coratti, Giorgia, Casiraghi, Jacopo, Bravetti, Chiara, Fedeli, Alessandro, Strika, Milija, Albamonte, Emilio, Antonaci, Laura, Rossi, Diletta, Pane, Marika, Sansone, Valeria Ada, Mercuri, Eugenio
Publicado 2023

Early Gross Motor Milestones in Duchenne Muscular Dystrophy

por Norcia, Giulia, Lucibello, Simona, Coratti, Giorgia, Onesimo, Roberta, Pede, Elisa, Ferrantini, Gloria, Brogna, Claudia, Cicala, Graziamaria, Carnicella, Sara, Forcina, Nicola, Fanelli, Lavinia, Pane, Marika, Mercuri, Eugenio
Publicado 2021

Language Development in Preschool Duchenne Muscular Dystrophy Boys

por Chieffo, Daniela Pia Rosaria, Moriconi, Federica, Mastrilli, Ludovica, Lino, Federica, Brogna, Claudia, Coratti, Giorgia, Altobelli, Michela, Massaroni, Valentina, Norcia, Giulia, Ferraroli, Elisabetta, Lucibello, Simona, Pane, Marika, Mercuri, Eugenio
Publicado 2022

Longitudinal natural history of type I spinal muscular atrophy: a critical review

por Mercuri, Eugenio, Lucibello, Simona, Perulli, Marco, Coratti, Giorgia, de Sanctis, Roberto, Pera, Maria Carmela, Pane, Marika, Montes, Jacqueline, de Vivo, Darryl C., Darras, Basil T., Kolb, Stephen J., Finkel, Richard S.
Publicado 2020

Assessing floppy infants: a new module

por Cutrona, Costanza, Pede, Elisa, De Sanctis, Roberto, Coratti, Giorgia, Tiberi, Eloisa, Luciano, Rita, Pera, Maria Carmela, Velli, Chiara, Capasso, Anna, Vento, Giovanni, Romeo, Domenico M., Pane, Marika, Mercuri, Eugenio
Publicado 2022

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in So...

por D’Amico, Adele, Fattori, Fabiana, Nicita, Francesco, Barresi, Sabina, Tasca, Giorgio, Verardo, Margherita, Pizzi, Simone, Moroni, Isabella, De Mitri, Francesca, Frongia, Annalia, Pane, Marika, Mercuri, Eugenio, Tartaglia, Marco, Bertini, Enrico
Publicado 2020

Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy

por Brogna, Claudia, Cristiano, Lara, Verdolotti, Tommaso, Norcia, Giulia, Ficociello, Luana, Ruiz, Roberta, Coratti, Giorgia, Fanelli, Lavinia, Forcina, Nicola, Petracca, Giorgia, Chieppa, Fabrizia, Tartaglione, Tommaso, Colosimo, Cesare, Pane, Marika, Mercuri, Eugenio
Publicado 2021

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

por Tabolacci, Elisabetta, Pomponi, Maria Grazia, Remondini, Laura, Pietrobono, Roberta, Orteschi, Daniela, Nobile, Veronica, Pucci, Cecilia, Musto, Elisa, Pane, Marika, Mercuri, Eugenio M., Neri, Giovanni, Genuardi, Maurizio, Chiurazzi, Pietro, Zollino, Marcella
Publicado 2021

Respiratory function and therapeutic expectations in DMD: families experience and perspective

por Brogna, Claudia, Lucibello, Simona, Coratti, Giorgia, Vita, Gianluca, Sansone, Valeria A., Messina, Sonia, Albamonte, Emilio, Salmin, Francesca, Ferrantini, Gloria, Pede, Elisa, Consulo, Chiara, Fanelli, Lavinia, Forcina, Nicola, Norcia, Giulia, Pane, Marika, Mercuri, Eugenio
Publicado 2020