Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders

por Barp, Andrea, Mosca, Lorena, Sansone, Valeria Ada
Publicado en Diagnostics (Basel) (2021)

Sialorrhea in patients with ALS: current treatment options

por Garuti, Giancarlo, Rao, Fabrizio, Ribuffo, Viviana, Sansone, Valeria A
Publicado en Degener Neurol Neuromuscul Dis (2019)

Anti-HMGCR myopathy misdiagnosed as motor neuron disease and complicated with COVID-19 infection

por Barp, Andrea, Velardo, Daniele, Ciscato, Patrizia, Sansone, Valeria Ada, Lunetta, Christian
Publicado en Neurol Sci (2021)

Inflammatory role of dendritic cells in Amyotrophic Lateral Sclerosis revealed by an analysis of patients’ peripheral blood

por Rusconi, Michela, Gerardi, Francesca, Santus, William, Lizio, Andrea, Sansone, Valeria Ada, Lunetta, Christian, Zanoni, Ivan, Granucci, Francesca
Publicado en Sci Rep (2017)

Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscular and Cardiac Assessments

por Valaperta, Rea, Sansone, Valeria, Lombardi, Fortunata, Verdelli, Chiara, Colombo, Alessio, Valisi, Massimiliano, Brigonzi, Elisa, Costa, Elena, Meola, Giovanni
Publicado 2013

Serum C-Reactive Protein as a Prognostic Biomarker in Amyotrophic Lateral Sclerosis

por Lunetta, Christian, Lizio, Andrea, Maestri, Eleonora, Sansone, Valeria Ada, Mora, Gabriele, Miller, Robert G., Appel, Stanley H., Chiò, Adriano
Publicado en JAMA Neurol (2017)

Circulating Irisin Is Reduced in Male Patients with Type 1 and Type 2 Myotonic Dystrophies

por Dozio, Elena, Passeri, Elena, Cardani, Rosanna, Benedini, Stefano, Aresta, Carmen, Valaperta, Rea, Corsi Romanelli, Massimiliano, Meola, Giovanni, Sansone, Valeria, Corbetta, Sabrina
Publicado en Front Endocrinol (Lausanne) (2017)

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 en Acta Myol (2018)

Ocular Involvement Occurs Frequently at All Stages of Amyotrophic Lateral Sclerosis: Preliminary Experience in a Large Italian Cohort

por Cozza, Federica, Lizio, Andrea, Greco, Lucia Catherine, Bona, Stefania, Donvito, Giordana, Carraro, Elena, Tavazzi, Silvia, Ticozzi, Nicola, Poletti, Barbara, Sansone, Valeria Ada, Lunetta, Christian
Publicado en J Clin Neurol (2021)

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 en Sci Rep (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 en Acta Myol (2021)

Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up

por Barp, Andrea, Carraro, Elena, Albamonte, Emilio, Salmin, Francesca, Lunetta, Christian, Comi, Giacomo Pietro, Messina, Carmelo, Albano, Domenico, Chianca, Vito, Sconfienza, Luca Maria, Mercuri, Eugenio Maria, Sansone, Valeria Ada
Publicado en J Neurol Sci (2020)

Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1

por Johnson, Nicholas E., Aldana, Eugenio Zapata, Angeard, Nathalie, Ashizawa, Tetsuo, Berggren, Kiera N., Marini-Bettolo, Chiara, Duong, Tina, Ekström, Anne-Berit, Sansone, Valeria, Tian, Cuixia, Hellerstein, Leah, Campbell, Craig
Publicado en Neurol Clin Pract (2019)

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 en Muscle Nerve (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 en Orphanet J Rare Dis (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 en Front Neurol (2020)

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

por Tristani-Firouzi, Martin, Jensen, Judy L., Donaldson, Matthew R., Sansone, Valeria, Meola, Giovanni, Hahn, Angelika, Bendahhou, Said, Kwiecinski, Hubert, Fidzianska, Anna, Plaster, Nikki, Fu, Ying-Hui, Ptacek, Louis J., Tawil, Rabi
Publicado 2002

Meditation Training for People with Amyotrophic Lateral Sclerosis and Their Caregivers

por Pagnini, Francesco, Di Credico, Chiara, Gatto, Ramona, Fabiani, Viviana, Rossi, Gabriella, Lunetta, Christian, Marconi, Anna, Fossati, Federica, Castelnuovo, Gianluca, Tagliaferri, Aurora, Banfi, Paolo, Corbo, Massimo, Sansone, Valeria, Molinari, Enrico, Amadei, Gherardo
Publicado 2014

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 en Acta Myol (2020)

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort

por Scarlino, Stefania, Domi, Teuta, Pozzi, Laura, Romano, Alessandro, Pipitone, Giovanni Battista, Falzone, Yuri Matteo, Mosca, Lorena, Penco, Silvana, Lunetta, Christian, Sansone, Valeria, Tremolizzo, Lucio, Fazio, Raffaella, Agosta, Federica, Filippi, Massimo, Carrera, Paola, Riva, Nilo, Quattrini, Angelo
Publicado en Int J Mol Sci (2020)