Diego Lopergolo

20PUBLICATIONS
128CO-AUTHORS
Medical infection agents (incl. prions)Polymerisation mechanismsOphthalmologyNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)
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Publications (20)

|Jan 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock

|Dec 11, 2025
Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity.

Giorgia D'Este, Alejandro Giorgetti, Denise Cassandrini

|Dec 08, 2025
Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy.

Alessandra Rufa, Domenico Plantone, Alessia Bargagli

|Nov 11, 2025
Miglustat in Alzheimer's Disease Associated With Heterozygous NPC1 Mutation: Exploratory Case Series and Preliminary Findings.

Diego Lopergolo, Daniele Gasparini, Silvia Bianchi

|Oct 28, 2025
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.

Adriana Amaro, Francesco Reggiani, Chiara Panicucci

|Sep 27, 2025
The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases.

Diego Lopergolo, Gianna Berti, Gian Nicola Gallus

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Frequent Collaborators

4 joint publications

Massimiliano Filosto

3 joint publications

Guido Primiano

3 joint publications

Alessandra Renieri

3 joint publications

Alessandro Malandrini