Jean‐Michel Pédespan

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

Romain Micol, Lilia Ben Slama, Felipe Suárez et al. · Journal of Allergy and Clinical Immunology · 2011 · 156 citations

Disease Etiology, Genetic Disorder, Genetic Epidemiology +8

Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation

Diana Rodriguez, Fernande Gauthier, Enrico Bertini et al. · The American Journal of Human Genetics · 2001 · 150 citations · Full text

Developmental Anomaly, Mendelian Disorder, Infantile Alexander Disease +11

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Dorien Lugtenberg, Tjitske Kleefstra, Astrid Oudakker et al. · European Journal of Human Genetics · 2008 · 148 citations · Full text

Structural Variation, Mecp2 Duplications, Mendelian Disorder +10

Absence Epilepsies

P Loiseau, B Duché, Jean‐Michel Pédespan · Epilepsia · 1995 · 136 citations

Neuropsychological Functioning, Juvenile Absence Epilepsy, Psychiatry +9

Interferon-β treatment in patients with childhood-onset multiple sclerosis

Yann Mikaeloff, Thibault Moreau, Marc Debouverie et al. · The Journal of Pediatrics · 2001 · 125 citations

Autoimmune Disease, Interferon-β Treatment, Medicine +5