Animal Models as a Tool to Design Therapeutical Strategies for CMT-like Hereditary Neuropathies

por Bosco, Luca, Falzone, Yuri Matteo, Previtali, Stefano Carlo
Publicado 2021

Evaluation of the combined effect of mobility and seasonality on the COVID-19 pandemic: a Lombardy-based study

por Falzone, Yuri Matteo, Bosco, Luca, Sferruzza, Giacomo, Russo, Tommaso, Vabanesi, Marco, Carlo, Signorelli, Filippi, Massimo
Publicado 2022

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases

por Zambon, Alberto A, Pini, Veronica, Bosco, Luca, Falzone, Yuri M, Munot, Pinki, Muntoni, Francesco, Previtali, Stefano C
Publicado 2022

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

por Graziola, Federica, Garone, Giacomo, Stregapede, Fabrizia, Bosco, Luca, Vigevano, Federico, Curatolo, Paolo, Bertini, Enrico, Travaglini, Lorena, Capuano, Alessandro
Publicado 2019

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy

por Bosco, Luca, Leone, Daniela, Costa Comellas, Laura, Monforte, Mauro, Pane, Marika, Mercuri, Eugenio, Bertini, Enrico, D’Amico, Adele, Fattori, Fabiana
Publicado 2022

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

por D’Amico, Adele, Longo, Antonella, Fattori, Fabiana, Tosi, Michele, Bosco, Luca, Chiarini Testa, Maria Beatrice, Paglietti, Maria Giovanna, Cherchi, Claudio, Carlesi, Adelina, Mizzoni, Irene, Bertini, Enrico
Publicado 2021

Correction to: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

por D’Amico, Adele, Longo, Antonella, Fattori, Fabiana, Tosi, Michele, Bosco, Luca, Testa, Maria Beatrice Chiarini, Paglietti, Maria Giovanna, Cherchi, Claudio, Carlesi, Adelina, Mizzoni, Irene, Bertini, Enrico
Publicado 2022

Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K(V)4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties

por Zanni, Ginevra, Hsiao, Cheng-Tsung, Fu, Ssu-Ju, Tang, Chih-Yung, Capuano, Alessandro, Bosco, Luca, Graziola, Federica, Bellacchio, Emanuele, Servidei, Serenella, Primiano, Guido, Soong, Bing-Wen, Jeng, Chung-Jiuan
Publicado 2021

Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature

por De Rose, Domenico Umberto, Ronci, Sara, Caoci, Stefano, Maddaloni, Chiara, Diodato, Daria, Catteruccia, Michela, Fattori, Fabiana, Bosco, Luca, Pro, Stefano, Savarese, Immacolata, Bersani, Iliana, Randi, Franco, Trozzi, Marilena, Meucci, Duino, Calzolari, Flaminia, Salvatori, Guglielmo, Solinas, Agostina, Dotta, Andrea, Campi, Francesca
Publicado 2023