Marie-Cécile Nassogne
8PUBLICATIONS
38CO-AUTHORS

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Publications (8)
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|Aug 22, 2025
Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.Mylène Donge, Sandrine Marie, Amandine Pochet
|Feb 07, 2024
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.Martina De Bortoli, Marta Ivars, Nicole Revencu
|Dec 14, 2023
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.Eleni Panagiotakaki, Francesco D Tiziano, Mohamad A Mikati
|Aug 11, 2023
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.Yeboah Kofi Gyening, Keren Boris, Mignot Cyril
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Frequent Collaborators
2 joint publications
Dana Dumitriu
1 joint publications
Océane Perdaens
1 joint publications
Yeboah Kofi Gyening
1 joint publications
Keren Boris
1 joint publications
Mignot Cyril
1 joint publications
Richard S Brush
1 joint publications
Martin-Paul Agbaga
1 joint publications
Gaetan Lesca
1 joint publications
Emanuela Abiusi
1 joint publications
Aster V E Harder