Caterina Garone

10PUBLICATIONS
39CO-AUTHORS
Gene and molecular therapyMajor global burdens of diseaseCell and nuclear divisionMedical infection agents (incl. prions)Epigenetics (incl. genome methylation and epigenomics)
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Publications (10)

|Jun 19, 2026
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency.

|Jun 19, 2026
Disease burden of untreated thymidine kinase 2 deficiency: insights from a large patient dataset.

|Apr 25, 2026
Novel Homozygous TUBGCP6 Variant Impairs Brain Development: Case Report and Literature Review.

|Mar 20, 2025
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.

Sara Carli, Anna Levarlet, Daria Diodato

|Mar 03, 2025
Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal Seizures.

Luca Bergonzini, Sara Carli, Silvia Pelle

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

Eleonora Manzoni, Sara Carli, Pauline Gaignard

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Frequent Collaborators

3 joint publications

Sara Carli

3 joint publications

Cristina Domínguez-González

2 joint publications

Michio Hirano

2 joint publications

Guido Primiano