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

A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement

by Federica Ruscitti, Lucia Trevisan, Giulia Rosti, Fabio Gotta, Annalia Cianflone, Alessandro Geroldi, Paola Origone, Anna Pichiecchio, Simona Viglio, Maria Iascone, Paola Mandich
Published 2021-09-01

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

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

by Angelica D'Amore, Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli
Published 2018-12-01