The suspected SARS-Cov-2 infection in a Charcot-Marie-Tooth patient undergoing postsurgical rehabilitation: the value of telerehabilitation for evaluation and continuing treatment

av Prada, Valeria, Bellone, Emilia, Schenone, Angelo, Grandis, Marina
I publikationen Int J Rehabil Res (2020)

Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia

av Ciotti, Paola, Di Maria, Emilio, Bellone, Emilia, Ajmar, Franco, Mandich, Paola
Publicerad 2004

1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa

av Mandich, Paola, Lamp, Merit, Gotta, Fabio, Gulli, Rossella, Iacometti, Ariela, Marchese, Roberta, Bellone, Emilia, Abbruzzese, Giovanni, Ferrandes, Giovanna
I publikationen Mol Genet Genomic Med (2017)

People with Charcot-Marie-Tooth disease and COVID-19: Impaired physical conditions due to the lockdown. An International cross-sectional survey

av Prada, Valeria, Hamedani, Merhnaz, Genovese, Filippo, Zuppa, Angela, Benedetti, Luana, Bellone, Emilia, Grandis, Marina, Mandich, Paola, Schenone, Angelo
I publikationen Ann Phys Rehabil Med (2020)

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

av Mandich, Paola, Fossa, Paola, Capponi, Simona, Geroldi, Alessandro, Acquaviva, Massimo, Gulli, Rossella, Ciotti, Paola, Manganelli, Fiore, Grandis, Marina, Bellone, Emilia
Publicerad 2009

Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017

av Prada, Valeria, Massucco, Sara, Venturi, Consuelo, Geroldi, Alessandro, Bellone, Emilia, Mandich, Paola, Minuto, Michele, Varaldo, Emanuela, Mancardi, Giovanni, Grandis, Marina, Schenone, Angelo
I publikationen Front Neurol (2019)

Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations

av Prada, Valeria, Passalacqua, Mario, Bono, Maria, Luzzi, Paola, Scazzola, Sara, Nobbio, Lucilla Alessandra, Capponi, Simona, Bellone, Emilia, Mandich, Paola, Mancardi, Gianluigi, Shy, Michael, Schenone, Angelo, Grandis, Marina
Publicerad 2012

Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier

av Origone, Paola, Gotta, Fabio, Lamp, Merit, Trevisan, Lucia, Geroldi, Alessandro, Massucco, Davide, Grazzini, Matteo, Massa, Federico, Ticconi, Flavia, Bauckneht, Matteo, Marchese, Roberta, Abbruzzese, Giovanni, Bellone, Emilia, Mandich, Paola
I publikationen Cerebellum Ataxias (2018)

Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy “in disguise”

av Grandis, Marina, Geroldi, Alessandro, Gulli, Rossella, Manganelli, Fiore, Gotta, Fabio, Lamp, Merit, Origone, Paola, Trevisan, Lucia, Gemelli, Chiara, Fabbri, Sabrina, Schenone, Angelo, Tozza, Stefano, Santoro, Lucio, Bellone, Emilia, Mandich, Paola
I publikationen Orphanet J Rare Dis (2018)

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1

av Capponi, Simona, Geuens, Thomas, Geroldi, Alessandro, Origone, Paola, Verdiani, Simonetta, Cichero, Elena, Adriaenssens, Elias, De Winter, Vicky, Bandettini di Poggio, Monica, Barberis, Marco, Chiò, Adriano, Fossa, Paola, Mandich, Paola, Bellone, Emilia, Timmerman, Vincent
I publikationen Hum Mutat (2016)

RFC1 expansions are a common cause of idiopathic sensory neuropathy

av Currò, Riccardo, Salvalaggio, Alessandro, Tozza, Stefano, Gemelli, Chiara, Dominik, Natalia, Galassi Deforie, Valentina, Magrinelli, Francesca, Castellani, Francesca, Vegezzi, Elisa, Businaro, Pietro, Callegari, Ilaria, Pichiecchio, Anna, Cosentino, Giuseppe, Alfonsi, Enrico, Marchioni, Enrico, Colnaghi, Silvia, Gana, Simone, Valente, Enza Maria, Tassorelli, Cristina, Efthymiou, Stephanie, Facchini, Stefano, Carr, Aisling, Laura, Matilde, Rossor, Alexander M, Manji, Hadi, Lunn, Michael P, Pegoraro, Elena, Santoro, Lucio, Grandis, Marina, Bellone, Emilia, Beauchamp, Nicholas J, Hadjivassiliou, Marios, Kaski, Diego, Bronstein, Adolfo M, Houlden, Henry, Reilly, Mary M, Mandich, Paola, Schenone, Angelo, Manganelli, Fiore, Briani, Chiara, Cortese, Andrea
I publikationen Brain (2021)