Judith Melki

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 4K citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +6

Correlation between severity and SMN protein level in spinal muscular atrophy

Suzie Lefebvre, Philippe Burlet, Qing Liu et al. · Nature Genetics · 1997 · 1.1K citations

Medicine, Neurology, Neuroscience +11

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Hélène Puccio, Delphine Simon, Mireille Cossée et al. · Nature Genetics · 2001 · 738 citations

Medicine, Neurology, Neuroscience +17

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

Elisabeth Tournier‐Lasserve, Anne Joutel, Judith Melki et al. · Nature Genetics · 1993 · 683 citations

Life Sciences, Neurology, Neuroscience +14

Peroxisome proliferator‐activated receptor δ controls muscle development and oxydative capability

Serge Luquet, Joaquín López‐Soriano, Dorte Holst et al. · The FASEB Journal · 2003 · 502 citations

Life Sciences, Molecular Genetics, Physiology +17