Diana G. Barca

Bucharest, B 020021, Romania

Last Updated: 09/26/2026

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Found 23 publications

Genetic-Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies.

Genetic-Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies.

Journal: Epigenomes

Published: December 18, 2025

Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.

Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment.

Journal: Genes

Published: November 30, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Duchenne and Becker Muscular Dystrophies in Romania: a 10-year Retrospective Study.

Duchenne and Becker Muscular Dystrophies in Romania: a 10-year Retrospective Study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: May 23, 2025

Age-Onset-Related Particularities of Pediatric MS-Understanding the Spectrum: A Tertiary Center Experience.

Age-Onset-Related Particularities of Pediatric MS-Understanding the Spectrum: A Tertiary Center Experience.

Journal: Diseases (Basel, Switzerland)

Published: April 15, 2025

Pediatric-Onset Multiple Sclerosis (POMS) and Epilepsy: Exploring Etiological Complexity-Outcomes from a Single-Center Experience.

Pediatric-Onset Multiple Sclerosis (POMS) and Epilepsy: Exploring Etiological Complexity-Outcomes from a Single-Center Experience.

Journal: Children (Basel, Switzerland)

Published: April 14, 2025

Epileptic Encephalopathy Related to CAD Deleterious Variants-A Case Series.

Epileptic Encephalopathy Related to CAD Deleterious Variants-A Case Series.

Journal: Diseases (Basel, Switzerland)

Published: February 11, 2025

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Journal: Nature communications

Published: February 29, 2024

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Journal: Epilepsia

Published: November 27, 2023

Brachial and subclavian arteries aneurysms due to tuberous sclerosis complex mechanisms - case report and literature review.

Brachial and subclavian arteries aneurysms due to tuberous sclerosis complex mechanisms - case report and literature review.

Journal: Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie

Published: September 08, 2022

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 22, 2021

Showing 1-12 of 23

Last Updated: 09/26/2026