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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 7, 2025
Incidence and timing of diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2): A nationwide study using the French hospital discharge databaseStéphane Auvin, Marc-Antoine Hamandjian, Pierre Karam, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 5, 2025
Mitochondrial Leigh syndrome: the state of the artGauthier Toutain, Célia Hoebeke, Marguerite Gastaldi, et al.
European Journal of Medical Genetics|January 22, 2025
Hepatic manifestations in VPS53-related pontocerebellar hypoplasia type 2E: A case reportAuriane Mouchez, Célia Hoebeke, Béatrice Desnous, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 21, 2020
Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohortBastien Estublier, Aline Cano, Célia Hoebeke, et al.
Journal of Clinical Medicine|February 27, 2026
Global Longitudinal Strain Alteration of the Left Ventricle in Children with Organic Aciduria: Cardiac Disease in Organic AciduriaBastien Moysset, Célia Hoebeke, Brigitte Chabrol, et al.
Mitochondrion|December 12, 2022
UQCRC2-related mitochondrial complex III deficiency, about 7 patientsClaire Bansept, Pauline Gaignard, Elise Lebigot, et al.
Mitochondrion|February 20, 2026
From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2Célia Hoebeke, Camille Engel, Claire-Marine Berat, et al.
Journal of Inherited Metabolic Disease|February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic DiseasesAline Cano, Xiaoyi Chen, Azza Khemiri, et al.
Molecular Genetics and Metabolism|September 21, 2024
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare DiseasesJuliette Bouchereau, Camille Wicker, Karine Mention, et al.
Journal of Inherited Metabolic Disease|September 15, 2020
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defectClaire-Marine Bérat, Sebastian Montealegre, Arnaud Wiedemann, et al.
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