Sara Pagans
Institut D'Investigació Biomèdica De Girona Dr. Josep Trueta
Girona, CT, Spain
Girona, CT, Spain
Last Updated: 09/26/2026
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Found 16 publications
Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.
Journal: Molecular genetics & genomic medicine
Published: January 29, 2024
Targeted Phasing of 2-200 Kilobase DNA Fragments with a Short-Read Sequencer and a Single-Tube Linked-Read Library Method.
Journal: bioRxiv : the preprint server for biology
Published: March 22, 2023
Epigenetic Changes Governing Scn5a Expression in Denervated Skeletal Muscle.
Journal: International journal of molecular sciences
Published: November 06, 2020
Role of Non-Coding Variants in Brugada Syndrome.
Journal: International journal of molecular sciences
Published: October 14, 2020
Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants.
Journal: Cell reports. Medicine
Published: September 29, 2020
Do sodium channel proteolytic fragments regulate sodium channel expression?
Journal: Channels (Austin, Tex.)
Published: July 19, 2017
A mechanism for NaV 1.5 downregulation and sodium current decrease in heart failure.
Journal: Acta physiologica (Oxford, England)
Published: May 31, 2017
Transcriptional regulation of the sodium channel gene (SCN5A) by GATA4 in human heart.
Journal: Journal of molecular and cellular cardiology
Published: June 03, 2016
Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.
Journal: Circulation journal : official journal of the Japanese Circulation Society
Published: July 17, 2015
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
Journal: PloS one
Published: February 10, 2015
Last Updated: 09/26/2026