Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients
Our study further expands NEK1 genetic variability by identifying novel rare variants and confirming ALS oligogenic nature since 19.6% of NEK1 patients also carried mutations in one of the four main ALS-associated genes.
Authors
- A. Prelle (ORCID: https://orcid.org/0000-0002-7019-5291)
- Silvia Peverelli (ORCID: https://orcid.org/0000-0002-3226-1112)
- Antonia Ratti (ORCID: https://orcid.org/0000-0002-4264-6614)
- Eleonora Dalla Bella (ORCID: https://orcid.org/0000-0001-6267-9651)
- Claudia Morelli (ORCID: https://orcid.org/0000-0003-4027-958X)
- Pierpaola Tannorella (ORCID: https://orcid.org/0000-0003-1367-9860)
- Franco Taroni (ORCID: https://orcid.org/0000-0002-2269-4504)
- Giuseppe Lauria (ORCID: https://orcid.org/0000-0001-9773-020X)
- Cinzia Tiloca (ORCID: https://orcid.org/0000-0001-8491-5758)
- Jessica Mandrioli (ORCID: https://orcid.org/0000-0002-9244-9782)
- Stefania Magri (ORCID: https://orcid.org/0000-0002-9610-7544)
- Viviana Pensato (ORCID: https://orcid.org/0000-0001-9798-2669)
- Monica Pingue
- Roberto Eleopra (ORCID: https://orcid.org/0000-0002-6035-9715)
- Federico Verde (ORCID: https://orcid.org/0000-0002-3977-6995)
- Nilo Riva
- Alberto Brusati (ORCID: https://orcid.org/0000-0003-0686-8030)
- Arianna Manini (ORCID: https://orcid.org/0000-0003-3352-5228)
- Alberto Doretti (ORCID: https://orcid.org/0000-0002-1015-7365)
- Fabrizia Terenghi (ORCID: https://orcid.org/0000-0002-4708-7380)
- Nicola Ticozzi
Institutions
- University of Modena and Reggio Emilia (IT)
- University of Milan (IT)
- University of Pavia (IT)
- Azienda Ospedaliero-Universitaria di Modena (IT)
- IRCCS Istituto Auxologico Italiano (IT)
- Azienda Ospedaliera Ospedale Civile di Legnano (IT)
- IRCCS Humanitas Research Hospital (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2025-06-19
- DOI
- https://doi.org/10.1007/s00415-025-13153-6
- Citations
- 3
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 4.17
Funders
- Università degli Studi di Milano
- Ministero della Salute