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Journal of Medical Genetics|January 24, 2018
High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiencyIsaure de Beaurepaire, David Grévent, Marlène Rio, et al.Journal of Medical Genetics|April 3, 2021
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndromeMarion Aubert Mucca, Olivier Patat, Sandra Whalen, et al.Annals of Clinical and Translational Neurology|July 16, 2020
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndromeIngo Helbig, Giulia Barcia, Manuela Pendziwiat, et al.Molecular Genetics and Metabolism|August 14, 2025
Childhood POLG-related disorders: Focus on polyradiculoneuropathyClaire-Marine Bérat, Marie Hully, Agnès Rötig, et al.American Journal of Human Genetics|July 5, 2016
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I DeficiencyLaura Sánchez-Caballero, Benedetta Ruzzenente, Lucas Bianchi, et al.Journal of Medical Genetics|November 17, 2020
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux, et al.Nature Genetics|October 23, 2012
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancyGiulia Barcia, Matthew R Fleming, Aline Deligniere, et al.Human Mutation|November 5, 2019
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsGiulia Barcia, Marlène Rio, Zahra Assouline, et al.Epilepsia Open|May 10, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsiesGiulia Barcia, Nicole Chemaly, Stéphanie Gobin-Limballe, et al.Neurology. Genetics|December 25, 2019
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variabilityGiulia Barcia, Nicole Chemaly, Mathieu Kuchenbuch, et al.Pageof 11