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.

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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

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article

Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients

A. Prelle, Silvia Peverelli, Antonia Ratti, Eleonora Dalla Bella et al.
3 citations
Journal of Neurology
Amyotrophic Lateral Sclerosis Research
4.17
article

Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients

A. Prelle, Silvia Peverelli, Antonia Ratti, Eleonora Dalla Bella, Claudia Morelli, Pierpaola Tannorella, Franco Taroni, Giuseppe Lauria, Cinzia Tiloca, Jessica Mandrioli, Stefania Magri, Viviana Pensato, Monica Pingue, Roberto Eleopra, Federico Verde, Nilo Riva, Alberto Brusati, Arianna Manini, Alberto Doretti, Fabrizia Terenghi, Nicola Ticozzi
article en
3 citations

Abstract

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.

Journal of NeurologyVol. 272(7)
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)
Università degli Studi di Milano, Ministero della Salute
Openalex Percentile: Top 6%
Amyotrophic Lateral Sclerosis Research
4.17
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