Danielle Château

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

Genetic Disorder, Genetics, Missense Mutation +6

Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo

Manuel Rojo, Frédéric Legros, Danielle Château et al. · Journal of Cell Science · 2002 · 541 citations

Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)

Claire Donger, Éric Krejci, Adolf Pou Serradell et al. · The American Journal of Human Genetics · 1998 · 160 citations · Full text

Mendelian Disorder, Connective Tissue Disease, Genetic Disorder +9

Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 cases

Ana Ferreiro, B. Estournet, Danielle Château et al. · Annals of Neurology · 2000 · 114 citations

Congenital Myopathy, Phenotype Classification, Genetic Epidemiology +22

The proteome of cytosolic lipid droplets isolated from differentiated Caco-2/TC7 enterocytes reveals cell-specific characteristics

Julien Bouchoux, Frauke Beilstein, Thomas Pauquai et al. · Biology of the Cell · 2011 · 112 citations · Full text