Jean‐Marie Mussini

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

Judith Fischer, Caroline Lefèvre, Éva Morava et al. · Nature Genetics · 2006 · 461 citations

Life Sciences, Genetics, Molecular Genetics +14

A Monoclonal Antibody to O-Acetyl-GD2 Ganglioside and Not to GD2 Shows Potent Anti-Tumor Activity without Peripheral Nervous System Cross-Reactivity

Nidia Alvarez-Rueda, Ariane Desselle, Denis Cochonneau et al. · PLoS ONE · 2011 · 98 citations · Full text

Medicine, Immunology, Oncology +9

Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

Sandra Mercier, Sébastien Küry, Gasnat Shaboodien et al. · The American Journal of Human Genetics · 2013 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A prospective study of criteria for the diagnosis of toxoplasmic encephalitis in 186 AIDS patients

François Raffi, J Aboulker, C. Michelet et al. · AIDS · 1997 · 78 citations

Medicine, Infectious Diseases, Neurology +13

Muscle biopsy in anti-neutrophil cytoplasmic antibody–associated vasculitis: diagnostic yield depends on anti-neutrophil cytoplasmic antibody type, sex and neutrophil count

Mathieu Lacou, Maxime Leroy, Nowenn Le Lan et al. · Lara D. Veeken · 2020 · 37 citations

Medicine, Clinical Sciences, Pathology +14