Alba Albero-Gabaldon
Valencia, VC 46026, Spain
Last Updated: 09/26/2026
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Found 8 publications
Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.
Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
Published: July 07, 2025
Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases.
Journal: International journal of molecular sciences
Published: December 27, 2024
Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants.
Journal: Genes
Published: August 30, 2024
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern.
Journal: Genes
Published: May 06, 2024
NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.
Journal: International journal of molecular sciences
Published: April 03, 2024
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Journal: Pediatric rheumatology online journal
Published: January 10, 2024
Showing 1-8 of 8
Last Updated: 09/26/2026