Fabiana S. Scornik

Institut D'Investigació Biomèdica De Girona Dr. Josep Trueta
Girona, CT, Spain

Last Updated: 09/26/2026

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Found 27 publications

Generation of human induced pluripotent stem cell lines from relatives of an unexplained sudden cardiac death victim carrying a Brugada Syndrome-associated, SCN5A c.287 T > C, variant.

Generation of human induced pluripotent stem cell lines from relatives of an unexplained sudden cardiac death victim carrying a Brugada Syndrome-associated, SCN5A c.287 T > C, variant.

Journal: Stem cell research

Published: June 16, 2026

Molecular autopsy identifies the NaV1.5 p.Leu96Pro variant causing sodium current loss-of-function in unexplained sudden cardiac death.

Molecular autopsy identifies the NaV1.5 p.Leu96Pro variant causing sodium current loss-of-function in unexplained sudden cardiac death.

Journal: Forensic science international. Genetics

Published: June 03, 2026

Identification of a Novel Genetic Variant Responsible for Familial Atrial Fibrillation.

Identification of a Novel Genetic Variant Responsible for Familial Atrial Fibrillation.

Journal: The Canadian journal of cardiology

Published: March 09, 2026

Identification of a Novel Genetic Variant responsible for Familial Atrial Fibrillation.

Identification of a Novel Genetic Variant responsible for Familial Atrial Fibrillation.

Journal: The Canadian journal of cardiology

Published: March 09, 2026

Generation of three heterozygous and two homozygous hiPSC lines from a CPVT associated mutation RYR2_p.G357S from a large family of the Canary Islands.

Generation of three heterozygous and two homozygous hiPSC lines from a CPVT associated mutation RYR2_p.G357S from a large family of the Canary Islands.

Journal: Stem cell research

Published: December 01, 2025

Generation of the induced pluripotent stem cell line ESi108-A from a familial atrial fibrillation patient.

Generation of the induced pluripotent stem cell line ESi108-A from a familial atrial fibrillation patient.

Journal: Stem cell research

Published: July 26, 2023

Loss of sodium current caused by a Brugada syndrome-associated variant is determined by patient-specific genetic background.

Loss of sodium current caused by a Brugada syndrome-associated variant is determined by patient-specific genetic background.

Journal: Heart rhythm

Published: April 13, 2022

Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A.

Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A.

Journal: Stem cell research

Published: February 25, 2022

Generation of an induced pluripotent stem cell line from a healthy Caucasian male.

Generation of an induced pluripotent stem cell line from a healthy Caucasian male.

Journal: Stem cell research

Published: January 13, 2022

Epigenetic Changes Governing Scn5a Expression in Denervated Skeletal Muscle.

Epigenetic Changes Governing Scn5a Expression in Denervated Skeletal Muscle.

Journal: International journal of molecular sciences

Published: November 06, 2020

An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders.

An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders.

Journal: Frontiers in cell and developmental biology

Published: January 21, 2020

Elucidating the Role of K+ Channels during In Vitro Capacitation of Boar Spermatozoa: Do SLO1 Channels Play a Crucial Role?

Elucidating the Role of K+ Channels during In Vitro Capacitation of Boar Spermatozoa: Do SLO1 Channels Play a Crucial Role?

Journal: International journal of molecular sciences

Published: November 15, 2019

Showing 1-12 of 27

Last Updated: 09/26/2026