Distal motor neuropathy associated with novel EMILIN1 mutation
Iacomino, Michele, Doliana, Roberto, Marchese, Maria, Capuano, Alessandra, Striano, Pasquale, Spessotto, Paola, Bosisio, Giulia, Iodice, Rosa, Manganelli, Fiore, Lanteri, Paola, Orsini, Alessandro, Baldassari, Simona, Baratto, Serena, Fruscione, Floriana, Prada, Valeria, Broda, Paolo, Tessa, Alessandra, Bertocci, Giulia, Schenone, Angelo, Colombatti, Alfonso, Minetti, Carlo, Santorelli, Filippo Maria, Zara, Federico, Fiorillo, Chiara
Published in Neurobiology of disease (01.04.2020)
Published in Neurobiology of disease (01.04.2020)
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Journal Article
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52
D’Amore, Angelica, Tessa, Alessandra, Naef, Valentina, Bassi, Maria Teresa, Citterio, Andrea, Romaniello, Romina, Fichi, Gianluca, Galatolo, Daniele, Mero, Serena, Battini, Roberta, Bertocci, Giulia, Baldacci, Jacopo, Sicca, Federico, Gemignani, Federica, Ricca, Ivana, Rubegni, Anna, Hirst, Jennifer, Marchese, Maria, Sahin, Mustafa, Ebrahimi‐Fakhari, Darius, Santorelli, Filippo M.
Published in Annals of clinical and translational neurology (01.04.2020)
Published in Annals of clinical and translational neurology (01.04.2020)
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Journal Article
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study
Rubegni, Anna, Malandrini, Alessandro, Dosi, Claudia, Astrea, Guja, Baldacci, Jacopo, Battisti, Carla, Bertocci, Giulia, Donati, M Alice, Dotti, M Teresa, Federico, Antonio, Giannini, Fabio, Grosso, Salvatore, Guerrini, Renzo, Lenzi, Sara, Maioli, Maria A, Melani, Federico, Mercuri, Eugenio, Sacchini, Michele, Salvatore, Simona, Siciliano, Gabriele, Tolomeo, Deborah, Tonin, Paola, Volpi, Nila, Santorelli, Filippo M, Cassandrini, Denise
Published in Neurology. Genetics (01.10.2019)
Published in Neurology. Genetics (01.10.2019)
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Journal Article
NeuroExam: a tool for neurological examination in neuromuscular diseases
Conte, Raffaele, Calderisi, Marco, Giorgolo, Francesca, Ceppa, Ilaria, Astrea, Guja, Rubegni, Anna, Frosini, Silvia, Bertocci, Giulia, Santorelli, Filippo Maria, Tonacci, Alessandro, Sansone, Francesco, Scudellari, Maria Cristina, Pala, Anna Paola, Grande, Andrea, Diodato, Gianluca, Roccella, Stefano, Spezzaneve, Andrea
Published in 2019 IEEE 23rd International Symposium on Consumer Technologies (ISCT) (01.06.2019)
Published in 2019 IEEE 23rd International Symposium on Consumer Technologies (ISCT) (01.06.2019)
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Conference Proceeding