Giulia Barcia

Paris, France

Last Updated: 09/26/2026

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Found 114 publications

TTC19-related mitochondrial disease: A characteristic neuroimaging signature?

TTC19-related mitochondrial disease: A characteristic neuroimaging signature?

Journal: Molecular genetics and metabolism

Published: June 02, 2026

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Expanding the phenotypic and genotypic spectrum of KCNT1-related epilepsies.

Expanding the phenotypic and genotypic spectrum of KCNT1-related epilepsies.

Journal: Brain communications

Published: November 11, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

Journal: Nature communications

Published: September 01, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

Journal: Brain communications

Published: July 25, 2025

Evidence supporting the role of GIGYF2 in synapse development and autism.

Evidence supporting the role of GIGYF2 in synapse development and autism.

Journal: Molecular psychiatry

Published: July 07, 2025

Assessing Real World Efficacy, Safety, and 18-Month Retention Rates of Cannabidiol in Individuals With Drug Resistant Epilepsies.

Assessing Real World Efficacy, Safety, and 18-Month Retention Rates of Cannabidiol in Individuals With Drug Resistant Epilepsies.

Journal: European journal of neurology

Published: July 01, 2025

Childhood POLG-related disorders: Focus on polyradiculoneuropathy.

Childhood POLG-related disorders: Focus on polyradiculoneuropathy.

Journal: Molecular genetics and metabolism

Published: June 10, 2025

Showing 1-12 of 114

Last Updated: 09/26/2026