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Journal of Medical Genetics|November 13, 2007
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathyH Rosas-Vargas, N Bahi-Buisson, C Philippe, et al.
Molecular Genetics and Metabolism|December 21, 2007
Risk assessment of acute vascular events in congenital disorder of glycosylation type IaJ B Arnoux, N Boddaert, V Valayannopoulos, et al.
JIMD Reports|February 23, 2013
Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiencyM Barth, V Serre, L Hubert, et al.
Epilepsy & Behavior : E&B|March 4, 2017
Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issuesR Nabbout, D M Andrade, N Bahi-Buisson, et al.
JIMD Reports|May 17, 2017
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 DeficiencyF Habarou, N Bahi-Buisson, E Lebigot, et al.
Molecular Genetics and Metabolism|October 24, 2007
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiencyN Boddaert, S Romano, B Funalot, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 3, 2024
Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trialJ Downs, P Jacoby, N Specchio, et al.
Journal of Neuroradiology = Journal De Neuroradiologie|April 10, 2010
Posterior fossa imaging in 158 children with ataxiaN Boddaert, I Desguerre, N Bahi-Buisson, et al.
AJNR. American Journal of Neuroradiology|December 24, 2021
Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary ResultsA-E Millischer, D Grevent, P Sonigo, et al.
European Journal of Medical Genetics|November 5, 2018
Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcomeB Deloison, P Sonigo, A E Millischer-Bellaiche, et al.
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