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.

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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
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article

Phenotypical Characterization of C9ALS Patients from the Emilia Romagna Registry of ALS: A Retrospective Case–Control Study

Cecilia Simonini, Elena Canali, Marco Currò Dossi, Serena Carra et al.
Genes
Amyotrophic Lateral Sclerosis Research
article

Phenotypical Characterization of C9ALS Patients from the Emilia Romagna Registry of ALS: A Retrospective Case–Control Study

Cecilia Simonini, Elena Canali, Marco Currò Dossi, Serena Carra, Elisabetta Zucchi, Andrea Ghezzi, Giovanna Zamboni, Lucia Zinno, Elisabetta Sette, Ilaria Martinelli, Patrizia De Massis, Marco Longoni, Jessica Mandrioli, Veria Vacchiano, Alberto Patuelli, Giulia Gianferrari, Matteo Gizzi, Emilio Terlizzi, Simonetta Morresi, Nicola Fini, Salvatore Ferro, Andi Nuredini, Luigi Bonan, Mario Santangelo, Doriana Medici, Elisa Baldassarri
article en

Abstract

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.

GenesVol. 16(3)
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)
Good health and well-being
Openalex Percentile: Top 93%
Amyotrophic Lateral Sclerosis Research
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