Olimpia Musumeci

19PUBLICATIONS
91CO-AUTHORS
Developmental genetics (incl. sex determination)Medical biochemistry - amino acids and metabolitesNeurology and neuromuscular diseasesMedical infection agents (incl. prions)Food properties (incl. characteristics and health benefits)
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Publications (19)

|Jun 03, 2026
HSD17B4-Related Disorder: Defining the Phenotype in Adult-Onset Patients.

|Feb 12, 2026
Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.

Alessia Pugliese, Christina von Landenberg, Romina Gallizzi

|Jan 26, 2026
Cognitive impairment in hereditary spastic paraparesis: An overlooked aspect of a motor disorder.

Grazia Maria Igea Falcone, Lilla Bonanno, Anita Maria Stella Graceffa

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

Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock

|Oct 15, 2025
Low-carbohydrate ketogenic diet in Mc Ardle's disease: a single-blinded randomized controlled trial.

A Martinuzzi, O Musumeci, C Stefan

|Mar 06, 2025
Cerebral foreign body reaction (CFBR) after endovascular treatments is a rare event to be aware of: case series and review of literature.

Giorgia Atanasio, Salvatore Bertino, Mariano Velo

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Frequent Collaborators

4 joint publications

Massimiliano Filosto

3 joint publications

Michelangelo Mancuso

3 joint publications

Filippo Maria Santorelli

3 joint publications

Serenella Servidei