Francesc Palau
Barcelona, CT, Spain
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 102 publications
Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease. Reply.
Journal: The Journal of clinical investigation
Published: February 16, 2026
Unraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy.
Journal: Biomolecules
Published: January 06, 2026
Multi-Omics Integration in Clinical Practice for the Identification of Genetic Variants in Rare Diseases.
Journal: Archives of medical research
Published: December 04, 2025
Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.
Journal: Bioinformatics (Oxford, England)
Published: November 21, 2025
Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing study.
Journal: Archives of disease in childhood. Fetal and neonatal edition
Published: September 26, 2025
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.
Journal: International journal of molecular sciences
Published: August 27, 2025
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.
Journal: The Journal of clinical investigation
Published: July 29, 2025
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.
Journal: Annals of neurology
Published: April 01, 2025
Patient involvement in clinical trials: a paradigm shift in research.
Journal: Orphanet journal of rare diseases
Published: February 10, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Journal: Brain communications
Published: January 13, 2025
Last Updated: 09/26/2026