Leticia D. Peleteiro-Pias

Esplugues De Llobregat, CT 08950, Spain

Last Updated: 09/26/2026

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Found 14 publications

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.

Journal: Genes
Published: March 13, 2026

Connections between physics and metabolism in brain functions.

Connections between physics and metabolism in brain functions.

Journal: iScience
Published: February 05, 2026

Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.

Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.

Journal: Journal of inherited metabolic disease
Published: June 02, 2025

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Journal: Genome medicine
Published: May 20, 2025

Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy.

Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy.

Journal: Neurobiology of disease
Published: February 19, 2025

Status epilepticus in POLG disease: a large multinational study.

Status epilepticus in POLG disease: a large multinational study.

Journal: Journal of neurology
Published: March 27, 2024

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Journal: International journal of molecular sciences
Published: September 05, 2022

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.

Journal: Journal of inherited metabolic disease
Published: June 10, 2022

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.

Journal: Clinical genetics
Published: December 20, 2021

The impact of gender, puberty, and pregnancy in patients with POLG disease.

The impact of gender, puberty, and pregnancy in patients with POLG disease.

Journal: Annals of clinical and translational neurology
Published: July 16, 2020

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.

Journal: Neurology
Published: December 23, 2019

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Journal: Journal of inherited metabolic disease
Published: August 14, 2019
Showing 1-12 of 14

Last Updated: 09/26/2026