Monica Troncoso
5PUBLICATIONS
93CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (5)
Sort by Publication Date:
|Mar 12, 2026
A KCNC1 variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel.Diego Maureira, Carla Rubilar, Joaquín López
|Apr 08, 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.A Reghan Foley, Véronique Bolduc, Fady Guirguis
|Nov 20, 2023
Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review.Sonia de Pedro Baena, Andrea Sariego Jamardo, Pedro Castro
|Feb 03, 2023
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.Anderson Rodrigues Brandão de Paiva, André Luiz Santos Pessoa, Paulo Ribeiro Nóbrega
Pageof 1
Frequent Collaborators
2 joint publications
Juan Darío Ortigoza-Escobar
1 joint publications
Anderson Rodrigues Brandão de Paiva
1 joint publications
David S Lynch
1 joint publications
Fernando Freua
1 joint publications
Henry Houlden
1 joint publications
Francisco Javier López González
1 joint publications
Rocío Sánchez Carpintero
1 joint publications
Alfredo Cerisola
1 joint publications
Carmen Fons
1 joint publications
A Reghan Foley
