Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations by Daniele Ammeti, Serena Barozzi, Alessandro Pecci, Melania Eva Zanchetta, Edward Cesnik, Alessandra Ferlini, Mariabeatrice Sanchini, Laura Verga, Valeria Bozzi, Fabio Corsolini, Michela Faleschini, Anna Savoia, Stefania Bigoni

Get full text

The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms. by Matteo Bovolenta, Daniela Erriquez, Emanuele Valli, Simona Brioschi, Chiara Scotton, Marcella Neri, Maria Sofia Falzarano, Samuele Gherardi, Marina Fabris, Paola Rimessi, Francesca Gualandi, Giovanni Perini, Alessandra Ferlini

Get full text

Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts by Daniela Benati, Eleonora Cattin, Federico Corradi, Tommaso Ferrari, Eleonora Pedrazzoli, Clarissa Patrizi, Matteo Marchionni, Roberto Bertorelli, Veronica De Sanctis, Luciano Merlini, Alessandra Ferlini, Patrizia Sabatelli, Francesca Gualandi, Alessandra Recchia

Get full text

Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. by Irina T Zaharieva, Mattia Calissano, Mariacristina Scoto, Mark Preston, Sebahattin Cirak, Lucy Feng, James Collins, Ryszard Kole, Michela Guglieri, Volker Straub, Kate Bushby, Alessandra Ferlini, Jennifer E Morgan, Francesco Muntoni

Get full text

<i>MECP2</i> mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping by Martina Mietto, Silvia Montanari, Maria Sofia Falzarano, Elisa Manzati, Paola Rimessi, Marina Fabris, Rita Selvatici, Francesca Gualandi, Marcella Neri, Fernanda Fortunato, Miryam Rosa Stella Foti, Stefania Bigoni, Marco Gessi, Marcella Vacca, Silvia Torelli, Joussef Hayek, Alessandra Ferlini

Get full text

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project by Christina Saier, Stefaan Sansen, Joanne Berghout, Kathrin Freyler, Moshe Einhorn, Yaron Einhorn, Leslie Matalonga, Sergi Beltran, Antonio Novelli, Rita Selvatici, Fernanda Fortunato, Silvia Montanari, Maria Martinez-Fresno, Gulcin Gumus, Emanuele Agolini, Nicolas Garnier, Alessandra Ferlini, Enrico Bertini, Janbernd Kirschner

Get full text

The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey by Michelangelo Mancuso, Alessandro Colitta, Manuela Lavorato, Peter Van den Bergh, Janbernd Kirschner, Cornelia Kornblum, Lorenzo Maggi, Francois Lamy, Hanns Lochmüller, Marianne Nordstrøm, Edoardo Malfatti, Alessandra Ferlini, Davide Pareyson, Vincenzo Silani, Kleopas A Kleopa, Marianne de Visser, Antonio Atalaia, Teresinha Evangelista

Get full text

O48: International Consortium on Newborn Sequencing (ICoNS) consensus guidelines for gene selection in genomic newborn screening programs by Nina Gold, Julie Yeo, Derek Ansel, Mei Baker, Jorune Balciuniene, Jonathan Berg, François Boemer, Wendy Chung, Heidi Cope, David Eckstein, Nicolas Encina, Laurence Faivre, Alessandra Ferlini, Judit Garcia-Villoria, Michael Gelb, Jose Manuel Gonzalez De Aledo Castillo, Katie Golden-Grant, Thomas Minten, Richard Parad, Nidhi Shah, Zornitza Stark, Kristen Sund, Petros Tsipouras, Meekai To, Lilian Downie

Get full text

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes. by Marika Pane, Elena S Mazzone, Maria Pia Sormani, Sonia Messina, Gian Luca Vita, Lavinia Fanelli, Angela Berardinelli, Yvan Torrente, Adele D'Amico, Valentina Lanzillotta, Emanuela Viggiano, Paola D'Ambrosio, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberta Scalise, Roberto De Sanctis, Enrica Rolle, Flaviana Bianco, Marlene Van der Haawue, Francesca Magri, Concetta Palermo, Francesca Rossi, Maria Alice Donati, Chiara Alfonsi, Michele Sacchini, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano C Previtali, Sara Napolitano, Claudio Bruno, Luisa Politano, Giacomo P Comi, Enrico Bertini, Lucia Morandi, Francesca Gualandi, Alessandra Ferlini, Nathalie Goemans, Eugenio Mercuri

Get full text