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European Journal of Neurology|November 11, 2025
Miglustat in Alzheimer's Disease Associated With Heterozygous NPC1 Mutation: Exploratory Case Series and Preliminary FindingsDiego Lopergolo, Daniele Gasparini, Silvia Bianchi, et al.
International Journal of Molecular Sciences|December 11, 2025
Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical ExpressivityGiorgia D'Este, Alejandro Giorgetti, Denise Cassandrini, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 2, 2016
Acetylcholine receptors from human muscle as pharmacological targets for ALS therapyEleonora Palma, Jorge Mauricio Reyes-Ruiz, Diego Lopergolo, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|December 16, 2014
Cutaneous silent period recordings in demyelinating and axonal polyneuropathiesDiego Lopergolo, Baris Isak, Maria Gabriele, et al.
Children (Basel, Switzerland)|September 28, 2023
Natural Course of <i>IQSEC2</i>-Related Encephalopathy: An Italian National Structured SurveySilvia Leoncini, Lidia Boasiako, Diego Lopergolo, et al.
Genes|February 26, 2025
Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in <i>PACS1</i>: An Italian Cohort StudyStefano Pagano, Diego Lopergolo, Alessandro De Falco, et al.
Brain Communications|December 8, 2025
Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathyAlessandra Rufa, Domenico Plantone, Alessia Bargagli, et al.
Journal of Medical Genetics|November 21, 2023
Familial Alzheimer's disease associated with heterozygous <i>NPC1</i> mutationDiego Lopergolo, Silvia Bianchi, Gian Nicola Gallus, et al.
Cells|September 14, 2024
<i>CCDC78</i>: Unveiling the Function of a Novel Gene Associated with Hereditary MyopathyDiego Lopergolo, Gian Nicola Gallus, Giuseppe Pieraccini, et al.
Neuromuscular Disorders : NMD|December 19, 2025
Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibilityDaniela Rossi, Carlotta Pranzo, Sara Roccabianca, et al.
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