Severe Dizziness and Hypereosinophilia: Coincidence or Complication? A Case Report

بواسطة Lo Presti, Giorgia, Barda, Beatrice, Uhr, Mario, Raimondi, Monika, Mora, Oreste
الحاوية / القاعدة Case Rep Oncol (2020)

The novel mitochondrial tRNA(Asn) gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

بواسطة Ronchi, Dario, Sciacco, Monica, Bordoni, Andreina, Raimondi, Monika, Ripolone, Michela, Fassone, Elisa, Di Fonzo, Alessio, Rizzuti, Mafalda, Ciscato, Patrizia, Cosi, Alessandra, Servida, Maura, Moggio, Maurizio, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo P
منشور في 2012

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

بواسطة Palmio, Johanna, Leonard-Louis, Sarah, Sacconi, Sabrina, Savarese, Marco, Penttilä, Sini, Semmler, Anna-Lena, Kress, Wolfram, Mozaffar, Tahseen, Lai, Tim, Stojkovic, Tanya, Berardo, Andres, Reisin, Ricardo, Attarian, Shahram, Urtizberea, Andoni, Cobo, Ana Maria, Maggi, Lorenzo, Kurbatov, Sergei, Nikitin, Sergei, Milisenda, José C., Fatehi, Farzad, Raimondi, Monika, Silveira, Fernando, Hackman, Peter, Claeys, Kristl G., Udd, Bjarne
الحاوية / القاعدة J Neurol (2019)

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

بواسطة Savarese, Marco, Maggi, Lorenzo, Vihola, Anna, Jonson, Per Harald, Tasca, Giorgio, Ruggiero, Lucia, Bello, Luca, Magri, Francesca, Giugliano, Teresa, Torella, Annalaura, Evilä, Anni, Di Fruscio, Giuseppina, Vanakker, Olivier, Gibertini, Sara, Vercelli, Liliana, Ruggieri, Alessandra, Antozzi, Carlo, Luque, Helena, Janssens, Sandra, Pasanisi, Maria Barbara, Fiorillo, Chiara, Raimondi, Monika, Ergoli, Manuela, Politano, Luisa, Bruno, Claudio, Rubegni, Anna, Pane, Marika, Santorelli, Filippo M., Minetti, Carlo, Angelini, Corrado, De Bleecker, Jan, Moggio, Maurizio, Mongini, Tiziana, Comi, Giacomo Pietro, Santoro, Lucio, Mercuri, Eugenio, Pegoraro, Elena, Mora, Marina, Hackman, Peter, Udd, Bjarne, Nigro, Vincenzo
الحاوية / القاعدة JAMA Neurol (2018)