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Frontiers in Integrative Neuroscience|February 23, 2024
Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular featuresDiego Lopergolo, Francesca Rosini, Elena Pretegiani, et al.
Seizure|May 31, 2022
Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pairAndrea Salvati, Tommaso Biagioni, Anna Rita Ferrari, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 17, 2023
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutationDiego Lopergolo, Simona Salvatore, Vincenzo Sorrentino, et al.
Seizure|December 8, 2022
CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literatureStefania Della Vecchia, Diego Lopergolo, Rosanna Trovato, et al.
Biomolecules|September 27, 2025
The First Heterozygous <i>TWNK</i> Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial DiseasesDiego Lopergolo, Gianna Berti, Gian Nicola Gallus, et al.
Neuropediatrics|August 7, 2023
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of SpeechDaniela Formicola, Irina Podda, Marilena Pantaleo, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 18, 2021
A new mutation in DNM2 gene in a large Italian familyDiego Lopergolo, Silvia Bocci, Anna Maria Pinto, et al.
Neurology International|July 25, 2025
G-Protein-Coupled Estrogen Receptor (GPER) in Inflammatory MyopathiesDelia Righi, Diego Lopergolo, Nila Volpi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 23, 2022
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosisDiego Lopergolo, Gianna Berti, Francesca Mari, et al.
Cells|February 23, 2024
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, et al.
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