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

Por Quijano-Roy, Susana, D'Amico, Adele
Publicado no Orphanet J Rare Dis (2015)

Congenital Muscular Dystrophies: A Brief Review

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

Spinal muscular atrophy

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

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 em 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 no Front Neurol (2020)

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 no PLoS One (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 no Neuromuscul Disord (2015)

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 no Acta Myol (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 no Neuromuscul Disord (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 no J Clin Med (2020)

Exon 45 Skipping Through U1-snRNA Antisense Molecules Recovers the Dys-nNOS Pathway and Muscle Differentiation in Human DMD Myoblasts

Por Cazzella, Valentina, Martone, Julie, Pinnarò, Chiara, Santini, Tiziana, Twayana, Shyam Sundar, Sthandier, Olga, D'Amico, Adele, Ricotti, Valeria, Bertini, Enrico, Muntoni, Francesco, Bozzoni, Irene
Publicado em 2012

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 no Neurology (2016)

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life

Por LEHMANN-HORN, FRANK, D’AMICO, ADELE, BERTINI, ENRICO, LOMONACO, MAURO, MERLINI, LUCIANO, NELSON, KEVIN R., PHILIPPI, HEIKE, SICILIANO, GABRIELE, SPAANS, FRANK, JURKAT-ROTT, KARIN
Publicado no Acta Myol (2017)

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 em 2013

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

Por Castiglioni, Claudia, Fattori, Fabiana, Udd, Bjarne, de los Angeles Avaria, Maria, Suarez, Bernardita, D’Amico, Adele, Malandrini, Alessandro, Carrozzo, Rosalba, Verrigni, Daniela, Bertini, Enrico, Tasca, Giorgio
Publicado no Eur J Hum Genet (2018)

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 no EBioMedicine (2015)

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

Por Odgerel, Zagaa, Sarkozy, Anna, Lee, Hee-Suk, McKenna, Caoimhe, Rankin, Julia, Straub, Volker, Lochmüller, Hanns, Paola, Francalanci, D’Amico, Adele, Bertini, Enrico, Bushby, Kate, Goldfarb, Lev G
Publicado em 2010

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

Por Peverelli, Lorenzo, Testolin, Silvia, Villa, Luisa, D'Amico, Adele, Petrini, Stefania, Favero, Chiara, Magri, Francesca, Morandi, Lucia, Mora, Marina, Mongini, Tiziana, Bertini, Enrico, Sciacco, Monica, Comi, Giacomo P., Moggio, Maurizio
Publicado no Neurology (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 no Front Genet (2020)

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

Por Tiziano, Francesco Danilo, Pinto, Anna Maria, Fiori, Stefania, Lomastro, Rosa, Messina, Sonia, Bruno, Claudio, Pini, Antonella, Pane, Marika, D'Amico, Adele, Ghezzo, Alessandro, Bertini, Enrico, Mercuri, Eugenio, Neri, Giovanni, Brahe, Christina
Publicado em 2010