Patrice Denèfle

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

Stephan Rust, Marie Rosier, Harald Funke et al. · Nature Genetics · 1999 · 1.4K citations

Signal Transduction, Disease Mechanism, Genetic Disorder +6

Association between Early-Onset Parkinson's Disease and Mutations in the<i>Parkin</i>Gene

Christoph B. Lücking, Alexandra Dürr, Vincenzo Bonifati et al. · New England Journal of Medicine · 2000 · 1.4K citations · Full text

A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe

N. Abbas, C.B. Lücking, Sylvain Ricard et al. · Human Molecular Genetics · 1999 · 531 citations

Brain macrophages synthesize interleukin‐1 and interleukin‐1 mRNAs in vitro

Emmanuelle Hetier, J. Ayala, Patrice Denèfle et al. · Journal of Neuroscience Research · 1988 · 287 citations

Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred

Alan T. Remaley, Stephan Rust, Marie Rosier et al. · Proceedings of the National Academy of Sciences · 1999 · 263 citations · Full text

Genetics, Molecular Biology, Tangier Disease +16