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

Por Prada, Valeria, Bellone, Emilia, Schenone, Angelo, Grandis, Marina
Publicado no Int J Rehabil Res (2020)

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

Por Ciotti, Paola, Di Maria, Emilio, Bellone, Emilia, Ajmar, Franco, Mandich, Paola
Publicado em 2004

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

Por Mandich, Paola, Lamp, Merit, Gotta, Fabio, Gulli, Rossella, Iacometti, Ariela, Marchese, Roberta, Bellone, Emilia, Abbruzzese, Giovanni, Ferrandes, Giovanna
Publicado no 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

Por Prada, Valeria, Hamedani, Merhnaz, Genovese, Filippo, Zuppa, Angela, Benedetti, Luana, Bellone, Emilia, Grandis, Marina, Mandich, Paola, Schenone, Angelo
Publicado no Ann Phys Rehabil Med (2020)

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

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

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

Por Prada, Valeria, Massucco, Sara, Venturi, Consuelo, Geroldi, Alessandro, Bellone, Emilia, Mandich, Paola, Minuto, Michele, Varaldo, Emanuela, Mancardi, Giovanni, Grandis, Marina, Schenone, Angelo
Publicado no Front Neurol (2019)

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

Por 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
Publicado em 2012

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

Por 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
Publicado no Cerebellum Ataxias (2018)

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

Por 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
Publicado no Orphanet J Rare Dis (2018)

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

Por 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
Publicado no Hum Mutat (2016)