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Neurology|September 25, 2025
Genetic Variants Associated With Neurodegenerative Disorders in Patients With Amyotrophic Lateral Sclerosis and Phenotypic VariabilityMaurizio Grassano, Emanuele Koumantakis, Francesca F Palumbo, et al.Neurology|May 18, 2023
Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and PrognosisAdriano Chiò, Cristina Moglia, Antonio Canosa, et al.Neurology|July 27, 2018
The multistep hypothesis of ALS revisited: The role of genetic mutationsAdriano Chiò, Letizia Mazzini, Sandra D'Alfonso, et al.Annals of Clinical and Translational Neurology|April 25, 2025
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral SclerosisArianna Manini, Rosario Vasta, Alberto Brusati, et al.Neurobiology of Aging|July 26, 2015
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestryGiuseppe Borghero, Maura Pugliatti, Francesco Marrosu, et al.Archives of Neurology|January 12, 2011
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP geneAdriano Chiò, Giuseppe Borghero, Maura Pugliatti, et al.Annals of Neurology|February 20, 2025
Brain Metabolic Features of FUS-ALS: A 2-[18F]FDG-PET StudyAntonio Canosa, Umberto Manera, Rosario Vasta, et al.Journal of Neurology|April 6, 2019
Parkinsonian traits in amyotrophic lateral sclerosis (ALS): a prospective population-based studyAndrea Calvo, Adriano Chiò, Marco Pagani, et al.Journal of Neurology|August 22, 2025
Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genesArianna Manini, Alberto Brusati, Maurizio Grassano, et al.Neurobiology of Aging|August 16, 2014
Genetic architecture of ALS in SardiniaGiuseppe Borghero, Maura Pugliatti, Francesco Marrosu, et al.Pageof 8