Phenotypical Characterization of C9ALS Patients from the Emilia Romagna Registry of ALS: A Retrospective Case–Control Study
In our dataset, we show an overall increased disease progression rate in C9ALS patients and hint at sex-specific discrepancies in some phenotypical characteristics. We also suggest a possible clinically relevant involvement of <i>C9ORF72</i> expansion in metabolism and autoimmunity.
Authors
- Cecilia Simonini (ORCID: https://orcid.org/0000-0001-5456-2365)
- Elena Canali
- Marco Currò Dossi
- Serena Carra (ORCID: https://orcid.org/0000-0003-0939-0140)
- Elisabetta Zucchi (ORCID: https://orcid.org/0000-0001-5604-4529)
- Andrea Ghezzi (ORCID: https://orcid.org/0000-0002-6073-0107)
- Giovanna Zamboni (ORCID: https://orcid.org/0000-0002-6133-3373)
- Lucia Zinno (ORCID: https://orcid.org/0000-0002-2956-7612)
- Elisabetta Sette
- Ilaria Martinelli (ORCID: https://orcid.org/0000-0003-2566-3671)
- Patrizia De Massis (ORCID: https://orcid.org/0000-0001-9713-7721)
- Marco Longoni (ORCID: https://orcid.org/0000-0003-2173-4858)
- Jessica Mandrioli (ORCID: https://orcid.org/0000-0002-9244-9782)
- Veria Vacchiano (ORCID: https://orcid.org/0000-0002-3607-2394)
- Alberto Patuelli
- Giulia Gianferrari (ORCID: https://orcid.org/0000-0002-4260-0915)
- Matteo Gizzi
- Emilio Terlizzi
- Simonetta Morresi
- Nicola Fini (ORCID: https://orcid.org/0000-0002-5828-0928)
- Salvatore Ferro
- Andi Nuredini (ORCID: https://orcid.org/0000-0002-4274-1275)
- Luigi Bonan (ORCID: https://orcid.org/0009-0000-5860-9394)
- Mario Santangelo
- Doriana Medici
- Elisa Baldassarri
Institutions
- University of Modena and Reggio Emilia (IT)
- University of Parma (IT)
- Ospedale "Santa Maria delle Croci" di Ravenna (IT)
- Azienda Ospedaliero-Universitaria di Modena (IT)
- Ospedale “M. Bufalini” di Cesena (IT)
- Ospedale Santa Maria (IT)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- Ospedale G.B. Morgagni - L.Pierantoni (IT)
- Ospedale Infermi di Rimini (IT)
- Guglielmo da Saliceto Hospital (IT)
- Ospedale Sant'Anna (IT)
- Carlo Forlanini Hospital (IT)
- University of Bologna (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-03-04
- DOI
- https://doi.org/10.3390/genes16030309
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00