G Ponsot
Hôpital d'Enfants(FR)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Fetal and Pediatric Neurological Disorders, Infectious Encephalopathies and Encephalitis, Health, Medicine and Society
Most-Cited Works
- → Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus(2006)883 cited
- → Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q(1990)397 cited
- → First episode of acute CNS inflammatory demyelination in childhood: prognostic factors for multiple sclerosis and disability(2004)320 cited
- → KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION(1988)298 cited
- → Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)(1998)262 cited
- → Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy(1988)228 cited
- → Diffuse cortical dysplasia, or the 'double cortex' syndrome