Giacomo Pietro Comi

27PUBLICATIONS
231CO-AUTHORS
Anthropological geneticsDevelopmental genetics (incl. sex determination)Medical infection agents (incl. prions)Neurology and neuromuscular diseasesMedical biochemistry - amino acids and metabolites
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Publications (27)

|May 21, 2026
Ataxia With Vitamin E Deficiency Syndrome and a Novel <i>TTPA</i> 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

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

Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock

|Dec 21, 2025
Targeted antisense oligonucleotide treatment rescues developmental alterations in spinal muscular atrophy organoids.

Irene Faravelli, Paola Rinchetti, Monica Tambalo

|Oct 16, 2025
The Emotional Landscape of Multiple System Atrophy: A Preliminary Personality-Based Perspective.

Eleonora Zirone, Giulia Franco, Federica Arienti

|Sep 03, 2025
Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy.

Martina Rimoldi, Francesca Magri, Megi Meneri

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Frequent Collaborators

11 joint publications

Dario Ronchi

9 joint publications

Stefania Paola Corti

5 joint publications

Alessio Di Fonzo

4 joint publications

Francesca Magri