Guido Primiano

35PUBLICATIONS
157CO-AUTHORS
Cell and nuclear divisionMedical mycologyMedical infection agents (incl. prions)Medical molecular engineering of nucleic acids and proteinsLinguistic structures (incl. phonology, morphology and syntax)
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Publications (35)

|May 25, 2026
Compound Heterozygous COA7 Variants Presenting With Childhood-Onset Axonal Neuropathy in 2 Siblings.

|Apr 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

|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
Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia.

Michela Cicchinelli, Guido Primiano, Francesca Canu

|Aug 28, 2025
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1.

Federico Calà, Elisabetta Sforza, Lucia D'Alatri

|Jun 04, 2025
Comparative Analysis of SiMoA and Ella Immunoassay Platforms for Measuring Serum Neurofilament Light Chain Levels in ATTRv With Polyneuropathy and Presymptomatic Carriers.

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Frequent Collaborators

11 joint publications

Serenella Servidei

10 joint publications

Marco Luigetti

7 joint publications

Angela Romano

4 joint publications

Domenico Plantone