Laura Gort
8PUBLICATIONS
50CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (8)
Sort by Publication Date:
|Sep 30, 2025
Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.Elsa Lucas-Castro, Francisca Diaz-González, Silvia Modamio-Høybjor
|Sep 04, 2024
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.Agustin Hidalgo-Gutierrez, Jonathan Shintaku, Javier Ramon
|Aug 12, 2023
Functional Evidence of <i>CCDC186</i> as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.Luisa Arrabal, Gerard Muñoz-Pujol, Inmaculada Medina Martínez
|Jun 24, 2022
Bioenergetic and Autophagic Characterization of Skin Fibroblasts from <i>C9orf72</i> Patients.Maria Isabel Alvarez-Mora, Gloria Garrabou, Tamara Barcos
|Apr 23, 2022
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.Nuria Bujan, Constanza Morén, Francesc J García-García
|Mar 25, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.Eulàlia Segur-Bailach, Olatz Ugarteburu, Frederic Tort
Pageof 2
Frequent Collaborators
3 joint publications
Antonia Ribes
3 joint publications
Glòria Garrabou
2 joint publications
Eduardo Ruiz-Pesini
2 joint publications
Frederic Tort
1 joint publications
José E Bárcena
1 joint publications
Julio Montoya
1 joint publications
Eulàlia Segur-Bailach
1 joint publications
Celia Painous
1 joint publications
Constanza Morén
1 joint publications
Francesc J García-García
