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Cells|April 25, 2020
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR DegradationPaola Saveri, Maria De Luca, Veronica Nisi, et al.Epilepsia|October 16, 2020
Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 geneSara Matricardi, Paola De Liso, Elena Freri, et al.Journal of Neurology|June 19, 2025
Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patientsViviana Pensato, Silvia Peverelli, Cinzia Tiloca, et al.Epilepsy Research|April 16, 2019
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literatureJacopo C DiFrancesco, Barbara Castellotti, Raffaella Milanesi, et al.Journal of Neurology|May 12, 2023
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patientsChiara Benzoni, Marco Moscatelli, Laura Farina, et al.Plos One|September 3, 2020
Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencingRowida Almomani, Margherita Marchi, Maurice Sopacua, et al.Neurology. Genetics|October 23, 2025
Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related NeuropathiesChristian Laurini, Federica Rachele Danti, Massimo Russo, et al.Plos One|March 2, 2021
Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencingRowida Almomani, Margherita Marchi, Maurice Sopacua, et al.Nature Genetics|March 9, 2010
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, et al.Cell Death & Disease|September 27, 2024
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disordersMarta Cozzi, Stefania Magri, Barbara Tedesco, et al.Pageof 6