Francesc Palau
20PUBLICATIONS
82CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (20)
Sort by Publication Date:
|Dec 18, 2025
Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing study.Jonathan Olival, Janet Hoenicka, Gemma Arca
|Oct 16, 2025
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.Alba Pascual, Thaleia Moulka, Oriol de Fàbregues
|Aug 15, 2025
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.Berta Estévez-Arias, Siiri Sarv, Nathalie Bonello-Palot
|Jan 28, 2025
Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project.José Hernández-Rodríguez, Fernando Martínez-Valle, Xènia Acebes
|Jan 13, 2025
Abnormal redox balance at membrane contact sites causes axonopathy in GDAP1-related Charcot-Marie-Tooth disease.Lara Cantarero, Mònica Roldán, María Rodríguez-Sanz
|Dec 10, 2024
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.Berta Estévez-Arias, Leslie Matalonga, Delia Yubero
Pageof 4
Frequent Collaborators
8 joint publications
Janet Hoenicka
5 joint publications
Jordi Pijuan
5 joint publications
Daniel Natera-de Benito
3 joint publications
Berta Estévez-Arias
3 joint publications
Lara Cantarero
2 joint publications
Juan Darío Ortigoza-Escobar
2 joint publications
Judith Armstrong
2 joint publications
Kiran Polavarapu
2 joint publications
Rafael Artuch
2 joint publications
Roser Urreizti
