Sialorrhea in patients with ALS: current treatment options

por Garuti, Giancarlo, Rao, Fabrizio, Ribuffo, Viviana, Sansone, Valeria A
Publicado 2019

Measuring quality of life impairment in skeletal muscle channelopathies

por Sansone, V A, Ricci, C, Montanari, M, Apolone, G, Rose, M, Meola, G
Publicado 2012

Long‐term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis

por Sansone, Valeria A., Johnson, Nicholas E., Hanna, Michael G., Ciafaloni, Emma, Statland, Jeffrey M., Shieh, Perry B., Cohen, Fredric, Griggs, Robert C.
Publicado 2021

The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence

por IOLASCON, GIOVANNI, VITACCA, MICHELE, CARRARO, ELENA, CHISARI, CARMELO, FIORE, PIETRO, MESSINA, SONIA, MONGINI, TIZIANA ENRICA GIOVANNA, SANSONE, VALERIA A., TOSCANO, ANTONIO, SICILIANO, GABRIELE
Publicado 2018

The 6-min walk test as a new outcome measure in Amyotrophic lateral sclerosis

por Russo, Massimo, Lunetta, Christian, Zuccarino, Riccardo, Vita, Gian L., Sframeli, Maria, Lizio, Andrea, La Foresta, Stefania, Faraone, Cristina, Sansone, Valeria A., Vita, Giuseppe, Messina, Sonia
Publicado 2020

Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Associa...

por Rao, Fabrizio, Garuti, Giancarlo, Vitacca, Michele, Banfi, Paolo, Racca, Fabrizio, Cutrera, Renato, Pavone, Martino, Pedemonte, Marina, Schisano, Matteo, Pedroni, Stefania, Casiraghi, Jacopo, Vianello, Andrea, Sansone, Valeria A
Publicado 2021

Review of the Diagnosis and Treatment of Periodic Paralysis

por Statland, Jeffrey M., Fontaine, Bertrand, Hanna, Michael G., Johnson, Nicholas E., Kissel, John T., Sansone, Valeria A., Shieh, Perry B., Tawil, Rabi N., Trivedi, Jaya, Cannon, Stephen C., Griggs, Robert C.
Publicado 2017

“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...

por Ambrosini, Anna, Quinlivan, Ros, Sansone, Valeria A., Meijer, Ingeborg, Schrijvers, Guus, Tibben, Aad, Padberg, George, de Wit, Maarten, Sterrenburg, Ellen, Mejat, Alexandre, Breukel, Alexandra, Rataj, Michal, Lochmüller, Hanns, Willmann, Raffaella
Publicado 2019

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na(v)1.4

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

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

Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center

por Ferrari Aggradi, Carola R., Falcier, Elisa, Lizio, Andrea, Pirola, Alice, Casiraghi, Jacopo, Zanolini, Alice, Carraro, Elena, Mauro, Luca, Rao, Fabrizio, Roma, Elisabetta, Iannello, Antonino, De Mattia, Elisa, Barp, Andrea, Lupone, Sara, Gatti, Valentina, Italiano, Cristina, Sansone, Valeria A.
Publicado 2022

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

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

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

por LoRusso, Samantha, Johnson, Nicholas E., McDermott, Michael P., Eichinger, Katy, Butterfield, Russell J., Carraro, Elena, Higgs, Kiley, Lewis, Leann, Mul, Karlien, Sacconi, Sabrina, Sansone, Valeria A., Shieh, Perry, van Engelen, Baziel, Wagner, Kathryn, Wang, Leo, Statland, Jeffrey M., Tawil, Rabi
Publicado 2019

ELIXIR-UK role in bioinformatics training at the national level and across ELIXIR

por Larcombe, L., Hendricusdottir, R., Attwood, T.K., Bacall, F., Beard, N., Bellis, L.J., Dunn, W.B., Hancock, J.M., Nenadic, A., Orengo, C., Overduin, B., Sansone, S-A, Thurston, M., Viant, M.R., Winder, C.L., Goble, C.A., Ponting, C.P., Rustici, G.
Publicado 2017

RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing

por Falzarano, Maria S., Grilli, Andrea, Zia, Silvia, Fang, Mingyan, Rossi, Rachele, Gualandi, Francesca, Rimessi, Paola, El Dani, Reem, Fabris, Marina, Lu, Zhiyuan, Li, Wenyan, Mongini, Tiziana, Ricci, Federica, Pegoraro, Elena, Bello, Luca, Barp, Andrea, Sansone, Valeria A., Hegde, Madhuri, Roda, Barbara, Reschiglian, Pierluigi, Bicciato, Silvio, Selvatici, Rita, Ferlini, Alessandra
Publicado 2021

Body mass index in type 2 spinal muscular atrophy: a longitudinal study

por Ferrantini, Gloria, Coratti, Giorgia, Onesimo, Roberta, Lucibello, Simona, Bompard, Sarah, Turrini, Ida, Cicala, Graziamaria, Caprarelli, Michela, Pera, Maria Carmela, Bravetti, Chiara, Berti, Beatrice, Giorgio, Valentina, Bruno, Claudio, Brolatti, Noemi, Panicucci, Chiara, D’Amico, Adele, Longo, Antonella, Leoni, Chiara, Sansone, Valeria A., Albamonte, Emilio, Messina, Sonia, Sframeli, Maria, Bertini, Enrico, Pane, Marika, Mercuri, Eugenio
Publicado 2022

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

por Brogna, Claudia, Coratti, Giorgia, Pane, Marika, Ricotti, Valeria, Messina, Sonia, D’Amico, Adele, Bruno, Claudio, Vita, Gianluca, Berardinelli, Angela, Mazzone, Elena, Magri, Francesca, Ricci, Federica, Mongini, Tiziana, Battini, Roberta, Bello, Luca, Pegoraro, Elena, Baranello, Giovanni, Previtali, Stefano C., Politano, Luisa, Comi, Giacomo P., Sansone, Valeria A., Donati, Alice, Bertini, Enrico, Muntoni, Francesco, Goemans, Nathalie, Mercuri, Eugenio
Publicado 2019

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

por Brogna, Claudia, Coratt, Giorgia, Pane, Marika, Ricotti, Valeria, Messina, Sonia, D’Amico, Adele, Bruno, Claudio, Vita, Gianluca, Berardinelli, Angela, Mazzone, Elena, Magri, Francesca, Ricci, Federica, Mongini, Tiziana, Battini, Roberta, Bello, Luca, Pegoraro, Elena, Baranello, Giovanni, Previtali, Stefano C., Politano, Luisa, Comi, Giacomo P., Sansone, Valeria A., Donati, Alice, Bertini, Enrico, Muntoni, Francesco, Goemans, Nathalie, Mercuri, Eugenio
Publicado 2019

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

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

Nusinersen efficacy data for 24‐month in type 2 and 3 spinal muscular atrophy

por Pane, Marika, Coratti, Giorgia, Pera, Maria Carmela, Sansone, Valeria A., Messina, Sonia, d'Amico, Adele, Bruno, Claudio, Salmin, Francesca, Albamonte, Emilio, De Sanctis, Roberto, Sframeli, Maria, Di Bella, Vincenzo, Morando, Simone, Palermo, Concetta, Frongia, Anna Lia, Antonaci, Laura, Capasso, Anna, Catteruccia, Michela, Longo, Antonella, Ricci, Martina, Cutrona, Costanza, Pirola, Alice, Bravetti, Chiara, Pedemonte, Marina, Brolatti, Noemi, Bertini, Enrico, Mercuri, Eugenio
Publicado 2022