Management of congenital muscular dystrophies related to defects in the LMNA gene

por Quijano-Roy, Susana, D'Amico, Adele
Publicado 2015

Congenital Muscular Dystrophies: A Brief Review

por Bertini, Enrico, D'Amico, Adele, Gualandi, Francesca, Petrini, Stefania
Publicado 2011

Spinal muscular atrophy

por D'Amico, Adele, Mercuri, Eugenio, Tiziano, Francesco D, Bertini, Enrico
Publicado 2011

Switching therapies: safety profile of Onasemnogene abeparvovec-xioi in a SMA1 patient previously treated with Risdiplam

por Tosi, Michele, Catteruccia, Michela, Cherchi, Claudio, Mizzoni, Irene, D’Amico, Adele
Publicado 2022

miRNAs as serum biomarkers for Duchenne muscular dystrophy

por Cacchiarelli, Davide, Legnini, Ivano, Martone, Julie, Cazzella, Valentina, D'Amico, Adele, Bertini, Enrico, Bozzoni, Irene
Publicado 2011

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

por Modoni, Anna, D'Amico, Adele, Primiano, Guido, Capozzoli, Fiorentino, Desaphy, Jean-François, Lo Monaco, Mauro
Publicado 2020

Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report

por Nicita, Francesco, Travaglini, Lorena, Bombelli, Francesco, Tosi, Michele, Pro, Stefano, Bertini, Enrico, D'Amico, Adele
Publicado 2021

A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum

por Colona, Vito Luigi, Bertini, Enrico, Digilio, Maria Cristina, D’Amico, Adele, Novelli, Antonio, Pro, Stefano, Pisaneschi, Elisa, Nicita, Francesco
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

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

por Tasca, Giorgio, D'Amico, Adele, Monforte, Mauro, Nadaj-Pakleza, Aleksandra, Vialle, Marc, Fattori, Fabiana, Vissing, John, Ricci, Enzo, Bertini, Enrico
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

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

por Astrea, Guja, Pezzini, Ilaria, Picillo, Ester, Pasquariello, Rosa, Moro, Francesca, Ergoli, Manuela, D'Ambrosio, Paola, D'Amico, Adele, Politano, Luisa, Santorelli, Filippo Maria
Publicado 2016

Duchenne Dilated Cardiomyopathy: Cardiac Management from Prevention to Advanced Cardiovascular Therapies

por Adorisio, Rachele, Mencarelli, Erica, Cantarutti, Nicoletta, Calvieri, Camilla, Amato, Liliana, Cicenia, Marianna, Silvetti, Massimo, D’Amico, Adele, Grandinetti, Maria, Drago, Fabrizio, Amodeo, Antonio
Publicado 2020

Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation

por Desaphy, Jean-François, Carbonara, Roberta, D'Amico, Adele, Modoni, Anna, Roussel, Julien, Imbrici, Paola, Pagliarani, Serena, Lucchiari, Sabrina, Lo Monaco, Mauro, Conte Camerino, Diana
Publicado 2016

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report

por Martoni, Elena, Petrini, Stefania, Trabanelli, Cecilia, Sabatelli, Patrizia, Urciuolo, Anna, Selvatici, Rita, D'Amico, Adele, Falzarano, Sofia, Bertini, Enrico, Bonaldo, Paolo, Ferlini, Alessandra, Gualandi, Francesca
Publicado 2013

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

por D’Amico, Adele, Longo, Antonella, Fattori, Fabiana, Tosi, Michele, Bosco, Luca, Chiarini Testa, Maria Beatrice, Paglietti, Maria Giovanna, Cherchi, Claudio, Carlesi, Adelina, Mizzoni, Irene, Bertini, Enrico
Publicado 2021

Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

por D’Amico, Adele, Longo, Antonella, Fattori, Fabiana, Tosi, Michele, Bosco, Luca, Testa, Maria Beatrice Chiarini, Paglietti, Maria Giovanna, Cherchi, Claudio, Carlesi, Adelina, Mizzoni, Irene, Bertini, Enrico
Publicado 2022

Functional and Morphological Improvement of Dystrophic Muscle by Interleukin 6 Receptor Blockade

por Pelosi, Laura, Berardinelli, Maria Grazia, De Pasquale, Loredana, Nicoletti, Carmine, D'Amico, Adele, Carvello, Francesco, Moneta, Gian Marco, Catizone, Angela, Bertini, Enrico, De Benedetti, Fabrizio, Musarò, Antonio
Publicado 2015

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