Guilia Barcia

19PUBLICATIONS
166CO-AUTHORS
Medical infection agents (incl. prions)Characterisation of biological macromoleculesNeurogeneticsDevelopmental genetics (incl. sex determination)Quaternary environments
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Publications (19)

|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

|Sep 19, 2025
Assessing Real World Efficacy, Safety, and 18-Month Retention Rates of Cannabidiol in Individuals With Drug Resistant Epilepsies.

Nicole Chemaly, Mathieu Kuchenbuch, Emma Losito

|Jul 16, 2025
ATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutières syndrome.

Pauline Planté-Bordeneuve, Claire-Marine Bérat, Sylvain Hanein

|May 10, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Giulia Barcia, Nicole Chemaly, Stéphanie Gobin-Limballe

|Apr 14, 2025
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, <i>ATP9A</i>, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Amélie Cordovado, Yvan Hérenger, Coline Cormier

|Mar 05, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Clara Houdayer, Kathleen Rooney, Liselot van der Laan

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Frequent Collaborators

4 joint publications

Anna Kaminska

4 joint publications

Rima Nabbout

4 joint publications

Agnès Rötig

3 joint publications

Isabelle Desguerre