Different consequences of EGR2 mutants on the transactivation of human cx32 promoter

by Marco Musso, Piercesare Balestra, Franco Taroni, Emilia Bellone, Paola Mandich
Published 2003-02-01

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

by Valeria Prada, Sara Massucco, Consuelo Venturi, Alessandro Geroldi, Alessandro Geroldi, Emilia Bellone, Emilia Bellone, Paola Mandich, Paola Mandich, Michele Minuto, Michele Minuto, Emanuela Varaldo, Emanuela Varaldo, Giovanni Mancardi, Giovanni Mancardi, Marina Grandis, Marina Grandis, Angelo Schenone, Angelo Schenone
Published 2019-11-01

No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease

by Emilio Di Maria, Antonella Marasco, Marzia Tartari, Paola Ciotti, Giovanni Abbruzzese, Giuseppe Novelli, Emilia Bellone, Elena Cattaneo, Paola Mandich
Published 2006-11-01

The D355V Mutation Decreases EGR2 Binding to an Element within the Cx32 Promoter

by Marco Musso, Piercesare Balestra, Emilia Bellone, Denise Cassandrini, Emilio Di Maria, Laura Lamba Doria, Marina Grandis, GianLuigi Mancardi, Angelo Schenone, Giovanni Levi, Franco Ajmar, Paola Mandich
Published 2001-08-01

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

by Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Published 2018-03-01

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

by Marina Grandis, Alessandro Geroldi, Rossella Gulli, Fiore Manganelli, Fabio Gotta, Merit Lamp, Paola Origone, Lucia Trevisan, Chiara Gemelli, Sabrina Fabbri, Angelo Schenone, Stefano Tozza, Lucio Santoro, Emilia Bellone, Paola Mandich
Published 2018-10-01