G Ponsot

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Yanick J. Crow, Bruce E. Hayward, Rekha Parmar et al. · Nature Genetics · 2006 · 876 citations

Ags1 Locus, Mendelian Disorder, Genetic Disorder +11

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

Judith Melki, Sonia Abdelhak, P. Sheth et al. · Nature · 1990 · 397 citations

Genetic Analysis, Genetic Disorder, Genetics +6

First episode of acute CNS inflammatory demyelination in childhood: prognostic factors for multiple sclerosis and disability

Yann Mikaeloff, Samy Suissa, Louis Vallée et al. · The Journal of Pediatrics · 2004 · 320 citations

Prognostic Factors, Neurological Functioning, Neurological Disorder +8

Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)

V. des Portes, Fiona Francis, J.-M. Pinard et al. · Human Molecular Genetics · 1998 · 262 citations · Full text

Genetics, Doublecortin Gene, Epigenetics +20

Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy

Pierre Lebon, J Badoual, G Ponsot et al. · Journal of the Neurological Sciences · 1988 · 228 citations

Medicine, Immunology, Intrathecal Synthesis +4