Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4

by Serena Pagliarani, Sabrina Lucchiari, Marina Scarlato, Elisa Redaelli, Anna Modoni, Francesca Magri, Barbara Fossati, Stefano C. Previtali, Valeria A. Sansone, Marzia Lecchi, Mauro Lo Monaco, Mauro Lo Monaco, Giovanni Meola, Giacomo P. Comi, Giacomo P. Comi
Published 2020-04-01

“Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of peop...

by Anna Ambrosini, Ros Quinlivan, Valeria A. Sansone, Ingeborg Meijer, Guus Schrijvers, Aad Tibben, George Padberg, Maarten de Wit, Ellen Sterrenburg, Alexandre Mejat, Alexandra Breukel, Michal Rataj, Hanns Lochmüller, Raffaella Willmann, on behalf of the 235th ENMC workshop study group
Published 2019-06-01

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

by Maria Carmela Pera, Giorgia Coratti, Beatrice Berti, Adele D'Amico, Maria Sframeli, Emilio Albamonte, Roberto de Sanctis, Sonia Messina, Michela Catteruccia, Giorgia Brigati, Laura Antonaci, Simona Lucibello, Claudio Bruno, Valeria A Sansone, Enrico Bertini, Danilo Tiziano, Marika Pane, Eugenio Mercuri
Published 2020-01-01

Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study

by Samantha LoRusso, Nicholas E. Johnson, Michael P. McDermott, Katy Eichinger, Russell J. Butterfield, Elena Carraro, Kiley Higgs, Leann Lewis, Karlien Mul, Sabrina Sacconi, Valeria A. Sansone, Perry Shieh, Baziel van Engelen, Kathryn Wagner, Leo Wang, Jeffrey M. Statland, Rabi Tawil, on behalf of the ReSolve Investigators and the FSHD CTRN18
Published 2019-09-01

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

by Claudia Brogna, Giorgia Coratti, Marika Pane, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Enrico Bertini, Francesco Muntoni, Nathalie Goemans, Eugenio Mercuri, on behalf on the International DMD group
Published 2019-01-01

Type I SMA “new natural history”: long‐term data in nusinersen‐treated patients

by Marika Pane, Giorgia Coratti, Valeria A. Sansone, Sonia Messina, Michela Catteruccia, Claudio Bruno, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D’Amico, Chiara Bravetti, Beatrice Berti, Concetta Palermo, Daniela Leone, Giorgia Brigati, Paola Tacchetti, Francesca Salmin, Roberto De Sanctis, Simona Lucibello, Maria Carmela Pera, Marco Piastra, Orazio Genovese, Enrico Bertini, Gianluca Vita, Francesco Danilo Tiziano, Eugenio Mercuri, the Italian EAP Working Group
Published 2021-03-01

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

by Claudia Brogna, Giorgia Coratt, Marika Pane, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Enrico Bertini, Francesco Muntoni, Nathalie Goemans, Eugenio Mercuri, on behalf on the International DMD group
Published 2019-01-01

Nusinersen in pediatric and adult patients with type III spinal muscular atrophy

by Maria Carmela Pera, Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Jacqueline Montes, Valeria A. Sansone, Sally Dunaway Young, Tina Duong, Sonia Messina, Irene Mizzoni, Adele D’Amico, Matthew Civitello, Allan M. Glanzman, Claudio Bruno, Francesca Salmin, Simone Morando, Roberto De Sanctis, Maria Sframeli, Laura Antonaci, Anna Lia Frongia, Annemarie Rohwer, Mariacristina Scoto, Darryl C. De Vivo, Basil T. Darras, John Day, William Martens, Katia A. Patanella, Enrico Bertini, Francesco Muntoni, Richard Finkel, Eugenio Mercuri, the iSMAC group
Published 2021-08-01

North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.

by Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri, on behalf on the International DMD Group and the iMDEX Consortium
Published 2021-01-01

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

by Luca Bello, Grazia D’Angelo, Matteo Villa, Aurora Fusto, Sara Vianello, Beatrice Merlo, Daniele Sabbatini, Andrea Barp, Sandra Gandossini, Francesca Magri, Giacomo P. Comi, Marina Pedemonte, Paola Tacchetti, Valentina Lanzillotta, Federica Trucco, Adele D’Amico, Enrico Bertini, Guja Astrea, Luisa Politano, Riccardo Masson, Giovanni Baranello, Emilio Albamonte, Elisa De Mattia, Fabrizio Rao, Valeria A. Sansone, Stefano Previtali, Sonia Messina, Gian Luca Vita, Angela Berardinelli, Tiziana Mongini, Antonella Pini, Marika Pane, Eugenio Mercuri, Andrea Vianello, Claudio Bruno, Eric P. Hoffman, Lauren Morgenroth, Heather Gordish‐Dressman, Craig M. McDonald, CINRG‐DNHS Investigators, Elena Pegoraro
Published 2020-05-01