Frederic Tort

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 5

Top Topics

Mitochondrial Dna

Respiratory Tract

Tyrosine Kinase

Top Venues

Journal of inherited metabolic disease

Journal of clinical medicine

Annals of neurology

Clinical and translational medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Agustín Hidalgo-Gutiérrez, Jonathan Shintaku, Javier Ramón, Eliana Barriocanal-Casado, Alba Pesini, Russell P Saneto, Gloria Garrabou, Jose Cesar Milisenda, Ana Matas-Garcia, Laura Gort, Olatz Ugarteburu, Yue Gu, Lahari Koganti, Tian Wang, Saba Tadesse, Megi Meneri, Monica Sciacco, Shuang Wang, Kurenai Tanji, Marshall S Horwitz, Michael O Dorschner, Mahesh M Mansukhani, Giacomo Pietro Comi, Dario Ronchi, Ramon Ramon, Antonia Ribes, Frederic Tort, Michio Hirano
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease. Annals of neurology (2024)
Gerard Muñoz-Pujol, Olatz Ugarteburu, Eulàlia Segur-Bailach, Sonia Moliner, Susana Jurado, Glòria Garrabou, Mariona Guitart-Mampel, Judit García-Villoria, Rafael Artuch, Carme Fons, Antonia Ribes, Frederic Tort
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders. Journal of inherited metabolic disease (2023)
Eulàlia Segur-Bailach, Olatz Ugarteburu, Frederic Tort, Laura Texido, Cèlia Painous, Yaroslau Compta, Maria José Martí, Antonia Ribes, Laura Gort
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease. Journal of clinical medicine 11 (6) (2022)
Frederic Tort
HACE1 builds molecular crosstalks between rare diseases and (more) common disorders. Clinical and translational medicine 12 (6) (2022)
Gerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, Cristina Jou, Olatz Ugarteburu, Laura Gort, Delia Yubero, Angels García-Cazorla, Mar O'Callaghan, Jaume Campistol, Jordi Muchart, Vicente A Yépez, Mirjana Gusic, Julien Gagneur, Holger Prokisch, Rafael Artuch, Antonia Ribes, Roser Urreizti, Frederic Tort
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. Brain pathology (Zurich, Switzerland) (2022)