Sonia Mayo

Madrid, MD 28041, Spain

Last Updated: 09/26/2026

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Found 26 publications

NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.

NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.

Journal: International journal of molecular sciences
Published: April 03, 2024

Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation.

Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: November 14, 2023

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.

Journal: International journal of molecular sciences
Published: February 20, 2023

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

Journal: International journal of molecular sciences
Published: March 31, 2022

Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations.

Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations.

Journal: European journal of obstetrics, gynecology, and reproductive biology
Published: September 20, 2021

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Journal: International journal of molecular sciences
Published: May 07, 2021

Letter to the Editor: Breastfeeding and COVID-19 Vaccine: Yes We Can.

Letter to the Editor: Breastfeeding and COVID-19 Vaccine: Yes We Can.

Journal: Journal of human lactation : official journal of International Lactation Consultant Association
Published: March 16, 2021

Recent Evidence in Epigenomics and Proteomics Biomarkers for Early and Minimally Invasive Diagnosis of Alzheimer's and Parkinson's Diseases.

Recent Evidence in Epigenomics and Proteomics Biomarkers for Early and Minimally Invasive Diagnosis of Alzheimer's and Parkinson's Diseases.

Journal: Current neuropharmacology
Published: July 03, 2020

Infantile epileptic encephalopathy: a good genetic study should be a priority

Infantile epileptic encephalopathy: a good genetic study should be a priority

Journal: Revista de neurologia
Published: April 27, 2018

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.

Journal: BioMed research international
Published: January 17, 2018

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability.

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability.

Journal: International journal of genomics
Published: November 23, 2016

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

Journal: Journal of medical genetics
Published: April 16, 2016
Showing 1-12 of 26

Last Updated: 09/26/2026