Dario Ronchi

16PUBLICATIONS
101CO-AUTHORS
OptometryAnthropological geneticsDevelopmental genetics (incl. sex determination)Structural properties of condensed matterMedical infection agents (incl. prions)
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Publications (16)

|Sep 30, 2026
PABPN1 pathogenic expansion in the UK Biobank: reframing genetic prevalence of oculopharyngeal muscular dystrophy.

|May 21, 2026
Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant: A Paired Case Report.

|Mar 19, 2026
High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis.

Delia Gagliardi, Chiara Villella, Matteo Zanovello

|Mar 19, 2026
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

Simona Zanotti, Francesca Magri, Sabrina Salani

|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

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Frequent Collaborators

11 joint publications

Giacomo Pietro Comi

6 joint publications

Stefania Paola Corti

3 joint publications

Alessio Di Fonzo

3 joint publications

Francesca Magri