Original articles

Torin1 restores proliferation rate in Charcot-Marie- Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation

Paola Zanfardino, Alessandro Amati, Easter Anna Petracca, Filippo M. Santorelli, Vittoria Petruzzella
Is paravertebral muscles edema a consequence of neurogenic changes in MuSK-positive myasthenia gravis?

Sergey N. Bardakov, Vadim A. Tsargush, Pierre G. Carlier, Tran Minh Duc, Andrey Yu. Emelin, Alexey Yu. Polushin, Alexander A. Emelyantsev, Andrey N. Belskikh, Ekaterina N. Berezhnaya, Sergey V. Lapin, Anna N. Moshnikova, Roman V. Deev
Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM – Italian Muscular Dystrophy Association Workshop report

Fabrizio Racca, Valeria A. Sansone, Federica Ricci, Massimiliano Filosto, Stefania Pedroni, Elena Mazzone, Yaroslava Longhitano, Christian Zanza, Anna Ardissone, Rachele Adorisio, Angela Berardinelli, Claudia Bondone, Chiara Briani, Francesca Cairello, Elena Carraro, Giacomo P. Comi, Grazia Crescimanno, Adele D’Amico, Fabio Deiaco, Alessia Fabiano, Francesco Franceschi, Michelangelo Mancuso, Alessandro Massè, Sonia Messina, Tiziana Mongini, Isabella Moroni, Andrea Moscatelli, Olimpia Musumeci, Paolo Navalesi, Gerardo Nigro, Carlo Origo, Chiara Panicucci, Marika Pane, Martino Pavone, Marina Pedemonte, Elena Pegoraro, Marco Piastra, Antonella Pini, Luisa Politano, Stefano Previtali, Fabrizio Rao, Giulia Ricci, Antonio Toscano, Andrea Wolfler, Khristian Zoccola, Cristina Sancricca, Vincenzo Nigro, Antonio Trabacca, Andrea Vianello, Claudio Bruno
Neuromuscular disorders and transition from pediatric to adult care in a multidisciplinary perspective: a narrative review of the scientific evidence and current debate

Giuseppe Accogli, Camilla Ferrante, Isabella Fanizza, Maria Carmela Oliva, Ivana Gallo, Marta De Rinaldis, Antonio Trabacca
Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1

Marianna Scutifero, Michele Lanza, Roberta Petillo, Maddalena De Bernardo, Luigia Passamano, Nicola Rosa, Luisa Politano
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course

Carolina Croci, Monica Traverso, Serena Baratto, Michele Iacomino, Marina Pedemonte, Francesco Caroli, Marcello Scala, Claudio Bruno, Chiara Fiorillo
Impact of the COVID-19 pandemic on neuromuscular rehabilitation setting. Part 2: patients and families’ views on the received health care during the pandemic

Lorenza Magliano, Giulia Citarelli, Maria Grazia Esposito, Vito Torre, Luisa Politano
Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study

Annamaria Gallone, Federica Mazzi, Silvia Bonanno, Riccardo Zanin, Marco Moscatelli, Domenico Aquino, Lorenzo Maggi
Peripheral circulation disturbances in two consecutive children with spinal muscular atrophy and literature review

Gloria Cristofano, Martina Fucci, Maria Carmela Oliva, Marta De Rinaldis De Rinaldis, Antonio Trabacca
The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2

Nitya Yerabandi, Valentina L. Kouznetsova, Santosh Kesari, Igor F. Tsigelny
Ambulatory Duchenne muscular dystrophy children: cross-sectional correlation between function, quantitative muscle ultrasound and MRI

Hala Abdulhady, Hossam M. Sakr, Nermine S. Elsayed, Tamer A. El-Sobky, Nagia Fahmy, Amr M. Saadawy, Heba Elsedfy
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature

Antonella Pizza*, Esther Picillo*, Maria Elena Onore, Marianna Scutifero, Luigia Passamano, Vincenzo Nigro, Luisa Politano
VCP-related myopathy: a case series and a review of literature

Eliana Iannibelli*, Sara Gibertini*, Marta Cheli, Flavia Blasevich, Andrea Cavaliere, Giorgia Riolo, Alessandra Ruggieri, Lorenzo Maggi
Telemedicine applied to neuromuscular disorders: focus on the COVID-19 pandemic era

Melania Giannotta, Cristina Petrelli, Antonella Pini
Cardiac disorders worsen the final outcome in myasthenic crisis undergoing non-invasive mechanical ventilation: a retrospective 20-year study from a single center

Erika Iori, Alessandra Ariatti, Marco Mazzoli, Elisabetta Bastia, Manuela Gozzi, Virginia Agnoletto, Alessandro Marchioni, Giuliana Galassi
Experience with telemedicine in neuromuscular clinic during COVID-19 pandemic

Mehdi Ghasemi, Kristy Poulliot, Kate M. Daniello, Brian Silver
Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still “invisible”?

Giulia Ricci, Francesca Torri, Francesca Bianchi, Lorenzo Fontanelli, Erika Schirinzi, Elisa Gualdani, Paolo Francesconi, Delia Gagliardi, Gigliola Serra, Tiziana Mongini, Gabriele Siciliano

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Original articles

Torin1 restores proliferation rate in Charcot-Marie- Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation

Is paravertebral muscles edema a consequence of neurogenic changes in MuSK-positive myasthenia gravis?

Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM – Italian Muscular Dystrophy Association Workshop report

Neuromuscular disorders and transition from pediatric to adult care in a multidisciplinary perspective: a narrative review of the scientific evidence and current debate

Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1

Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course

Impact of the COVID-19 pandemic on neuromuscular rehabilitation setting. Part 2: patients and families’ views on the received health care during the pandemic

Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study

Peripheral circulation disturbances in two consecutive children with spinal muscular atrophy and literature review

The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2

Ambulatory Duchenne muscular dystrophy children: cross-sectional correlation between function, quantitative muscle ultrasound and MRI

Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature

VCP-related myopathy: a case series and a review of literature

Telemedicine applied to neuromuscular disorders: focus on the COVID-19 pandemic era

Cardiac disorders worsen the final outcome in myasthenic crisis undergoing non-invasive mechanical ventilation: a retrospective 20-year study from a single center

Experience with telemedicine in neuromuscular clinic during COVID-19 pandemic

Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still “invisible”?

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