Monica Troncoso

Santiago, RM 8380453, Chile

Last Updated: 09/26/2026

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Found 30 publications

A KCNC1 variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel.

A KCNC1 variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: March 12, 2026

Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.

Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.

Journal: Annals of neurology

Published: September 07, 2025

ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.

ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.

Journal: JAMA pediatrics

Published: March 03, 2025

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Journal: Brain : a journal of neurology

Published: October 03, 2024

Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.

Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

Journal: medRxiv : the preprint server for health sciences

Published: April 08, 2024

The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families.

The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families.

Journal: Frontiers in neuroscience

Published: March 27, 2024

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Journal: Genome medicine

Published: February 08, 2023

Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.

Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.

Journal: Molecular syndromology

Published: September 01, 2022

Spatial and Ecological Factors Modulate the Incidence of Anti-NMDAR Encephalitis-A Systematic Review.

Spatial and Ecological Factors Modulate the Incidence of Anti-NMDAR Encephalitis-A Systematic Review.

Journal: Biomedicines

Published: August 19, 2022

Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.

Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: August 16, 2022

Super-refractory status epilepticus related to COVID-19 in a paediatric patient with PRRT2 mutation.

Super-refractory status epilepticus related to COVID-19 in a paediatric patient with PRRT2 mutation.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: October 20, 2021

Showing 1-12 of 30

Last Updated: 09/26/2026