Frederic Tort

5PUBLICATIONS
29CO-AUTHORS
Gene mappingGene expression (incl. microarray and other genome-wide approaches)Medical biochemistry - proteins and peptides (incl. medical proteomics)Predictive and prognostic markers
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Publications (5)

|Sep 04, 2024
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

Agustin Hidalgo-Gutierrez, Jonathan Shintaku, Javier Ramon

|Sep 18, 2023
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.

Gerard Muñoz-Pujol, Olatz Ugarteburu, Eulàlia Segur-Bailach

|Nov 30, 2022
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.

Gerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes

|Mar 25, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.

Eulàlia Segur-Bailach, Olatz Ugarteburu, Frederic Tort

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Frequent Collaborators

3 joint publications

Antonia Ribes

2 joint publications

Eulàlia Segur-Bailach

2 joint publications

Laura Gort

2 joint publications

Olatz Ugarteburu