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Molecular Genetics and Metabolism|October 8, 2021
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cellsJuliette Pulman, Benedetta Ruzzenente, Martin Horak, et al.
Pediatric Blood & Cancer|October 13, 2011
Status epilepticus as a main manifestation of posterior reversible encephalopathy syndrome after pediatric hematopoietic stem cell transplantationDuccio Maria Cordelli, Riccardo Masetti, Bruno Bernardi, et al.
Developmental Medicine and Child Neurology|January 29, 2021
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disordersKlervie Loiselet, Benedetta Ruzzenente, Charles-Joris Roux, et al.
European Journal of Neurology|September 19, 2025
Assessing Real World Efficacy, Safety, and 18-Month Retention Rates of Cannabidiol in Individuals With Drug Resistant EpilepsiesNicole Chemaly, Mathieu Kuchenbuch, Emma Losito, et al.
Molecular Genetics and Metabolism Reports|August 30, 2019
Expanding the clinical spectrum of <i>MTTF</i> mutationsGiulia Barcia, Zahra Assouline, Alessandra Pennisi, et al.
Epilepsia Open|June 3, 2024
Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhoodRocio Garcia-Uzquiano, Giulia Barcia, Emma Losito, et al.
Developmental Medicine and Child Neurology|July 16, 2025
ATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutières syndromePauline Planté-Bordeneuve, Claire-Marine Bérat, Sylvain Hanein, et al.
Molecular Genetics and Metabolism Reports|June 12, 2025
Tissue-specific mitochondrial DNA, <i>MT-TF,</i> pathogenic variants in mitochondrial myopathiesSylvia Rose, Aurélien Trimouille, Didier Lacombe, et al.
Developmental Medicine and Child Neurology|August 9, 2013
Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 childrenGiulia Barcia, Isabelle Desguerre, Orietta Carmona, et al.
Epilepsia|November 11, 2024
Transition from pediatric to adult care system in patients with complex epilepsies: Necker model for transition evaluated on 70 consecutive patientsRima Nabbout, Agathe Molimard, Giovanna Scorrano, et al.
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