Diego Martinelli

9PUBLICATIONS
59CO-AUTHORS
Neurology and neuromuscular diseasesMajor global burdens of diseaseEpigenetics (incl. genome methylation and epigenomics)Medical mycologyMetabolic medicine
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Publications (9)

|Apr 02, 2026
Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

Alessandra Torraco, Charlotte L Alston, Giulia Barcia

|Nov 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben

|Apr 10, 2025
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.

Cesar A P F Alves, Maria Camilla Rossi-Espagnet, Francisco Perez

|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Eleonora Manzoni, Sara Carli, Pauline Gaignard

|May 27, 2023
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.

Irini Manoli, Abigael Gebremariam, Samantha McCoy

|Mar 02, 2023
Neurologic outcome following liver transplantation for methylmalonic aciduria.

Diego Martinelli, Giulio Catesini, Benedetta Greco

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Frequent Collaborators

3 joint publications

Giulio Catesini

3 joint publications

Barbara Siri

3 joint publications

Carlo Dionisi-Vici

2 joint publications

Emanuele Agolini