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The Journal of Clinical Investigation|July 9, 2024
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanismMartina Riva, Sofia Ferreira, Kotaro Hayashi, et al.
Brain Communications|November 11, 2025
Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformationsSandro Benichi, Estelle Balducci, Joseph Benzakoun, et al.
Journal of Inherited Metabolic Disease|March 13, 2026
Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French CohortAdélaïde Vissac, Eugénie Sarda, Charles-Joris Roux, et al.
Clinical Genetics|February 8, 2022
Systemic inflammatory syndrome in children with FARSA deficiencyFabienne Charbit-Henrion, Roman Goguyer-Deschaumes, Keren Borensztajn, et al.
Molecular Genetics and Metabolism|August 5, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute managementCamille Wicker, Charles-Joris Roux, Louise Goujon, et al.
The Journal of Pediatrics|May 16, 2022
Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in ChildrenMelodie Aubart, Charles-Joris Roux, Chloé Durrleman, et al.
Neurology. Genetics|July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma DeficiencyAgnès Rötig, Pauline Gaignard, Giulia Barcia, et al.
Neurology. Genetics|April 15, 2024
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 VariantsSaskia B Wortmann, Rene G Feichtinger, Lucia Abela, et al.
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