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

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

Case report: Episodic ataxia without ataxia?

by Andrea Gaudio, Fabio Gotta, Clarissa Ponti, Clarissa Ponti, Francesca Sanguineri, Francesca Sanguineri, Lucia Trevisan, Lucia Trevisan, Alessandro Geroldi, Serena Patrone, Chiara Gemelli, Corrado Cabona, Guja Astrea, Chiara Fiorillo, Chiara Fiorillo, Stefano Gustincich, Marina Grandis, Marina Grandis, Paola Mandich, Paola Mandich
Published 2023-10-01

Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years

by Chiara Gemelli, Alessandro Geroldi, Sara Massucco, Lucia Trevisan, Ilaria Callegari, Lucio Marinelli, Giulia Ursino, Mehrnaz Hamedani, Giulia Mennella, Silvia Stara, Giovanni Maggi, Laura Mori, Cristina Schenone, Fabio Gotta, Serena Patrone, Alessia Mammi, Paola Origone, Valeria Prada, Lucilla Nobbio, Paola Mandich, Angelo Schenone, Emilia Bellone, Marina Grandis
Published 2022-03-01

Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

by Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, Oliver Murch, Maria Teresa Bonati, Alice Spano, Elisa Cattaneo, Milena Mariani, Fabio Gotta, Francesca Crosti, Pietro Cavalli, Chiara Pantaleoni, Federica Natacci, Maria Francesca Bedeschi, Donatella Milani, Silvia Maitz, Angelo Selicorni, Luigina Spaccini, Angela Peron, Silvia Russo, Lidia Larizza, Karen Low, Palma Finelli
Published 2022-05-01

Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation

by Emiliano Giardina, Emiliano Giardina, Paola Mandich, Paola Mandich, Roberta Ghidoni, Nicola Ticozzi, Nicola Ticozzi, Giacomina Rossi, Chiara Fenoglio, Chiara Fenoglio, Francesco Danilo Tiziano, Francesco Danilo Tiziano, Federica Esposito, Federica Esposito, Sabina Capellari, Sabina Capellari, Benedetta Nacmias, Benedetta Nacmias, Rossana Mineri, Rosa Campopiano, Luana Di Pilla, Federica Sammarone, Stefania Zampatti, Cristina Peconi, Flavio De Angelis, Flavio De Angelis, Ilaria Palmieri, Caterina Galandra, Eleonora Nicodemo, Paola Origone, Paola Origone, Fabio Gotta, Clarissa Ponti, Clarissa Ponti, Roland Nicsanu, Luisa Benussi, Silvia Peverelli, Antonia Ratti, Antonia Ratti, Martina Ricci, Giuseppe Di Fede, Stefania Magri, Maria Serpente, Serena Lattante, Serena Lattante, Teuta Domi, Paola Carrera, Elisa Saltimbanco, Silvia Bagnoli, Silvia Bagnoli, Assunta Ingannato, Assunta Ingannato, Alberto Albanese, Fabrizio Tagliavini, Raffaele Lodi, Carlo Caltagirone, Stefano Gambardella, Stefano Gambardella, Enza Maria Valente, Enza Maria Valente, Vincenzo Silani, Vincenzo Silani
Published 2024-01-01