Irene Gómez-Manjón

9PUBLICATIONS
29CO-AUTHORS
Foetal development and medicineGenetic immunologyNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Environmental epidemiology
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Publications (9)

|Jul 13, 2024
Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.

Marta García-López, Lydia Jiménez-Vicente, Raquel González-Jabardo

|Apr 13, 2023
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.

Sonia Mayo, Irene Gómez-Manjón, Ana Victoria Marco-Hernández

|Sep 23, 2022
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.

Maria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López

|May 14, 2022
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

Sonia Mayo, Irene Gómez-Manjón, Francisco Javier Fernández-Martínez

|Apr 23, 2022
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

Maria Isabel Alvarez-Mora, Victor Antonio Blanco-Palmero, Juan Francisco Quesada-Espinosa

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