Isabelle Desguerre

Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation.

O. Dulac, G. Ponsot, R. Nabbout, 2003, Neuropediatrics.

Unusual consequences of status epilepticus in Dravet syndrome

N. Boddaert, C. Depienne, P. Sabouraud, 2010, Seizure.

Comprehensive molecular screening strategy of OCLN in band‐like calcification with simplified gyration and polymicrogyria

Y. Crow, N. Boddaert, R. Nabbout, 2018, Clinical genetics.

Two new cases of serine deficiency disorders treated with l-serine.

E. Schaftingen, A. Brassier, V. Valayannopoulos, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.

A. Munnich, N. Boddaert, F. Brunelle, 2008, Molecular genetics and metabolism.

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations

A. Munnich, N. Boddaert, F. Brunelle, 2014, Journal of Medical Genetics.

Identifying interindividual variability of social perception and associated brain anatomical correlations in children with autism spectrum disorder using eye-tracking and diffusion tensor imaging MRI (DTI-MRI)

M. Zilbovicius, L. Fillon, A. Saitovitch, 2023, Cerebral cortex.

Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.

A. Brassier, M. Aubart, Charles-Joris Roux, 2024, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.

A. Munnich, D. Seidenwurm, N. Boddaert, 2008, Molecular genetics and metabolism.

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.

A. Munnich, O. Dulac, R. Nabbout, 2000, American journal of human genetics.