Fondation Jérôme-Lejeune

Classification of Human Chromosome 21 Gene-Expression Variations in Down Syndrome: Impact on Disease Phenotypes

Emilie Ait‐Yahya, Julie Aubert, Luce Dauphinot et al. · The American Journal of Human Genetics · 2007 · 340 citations · Full text

Down Syndrome, Mendelian Disorder, Genetic Disorder +8

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Anja Brehm, Yin Liu, Afzal Sheikh et al. · Journal of Clinical Investigation · 2015 · 330 citations · Full text

Genetics, Immunodeficiencies, Immunology +26

Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo-controlled, phase 2 trial

Rafael de la Torre, Susana Solá, Gimena Hernández et al. · The Lancet Neurology · 2016 · 274 citations · Full text

Down Syndrome, Intellectual Impairment, Young Adults +7

Epigallocatechin‐3‐gallate, a DYRK1A inhibitor, rescues cognitive deficits in <scp>D</scp>own syndrome mouse models and in humans

Rafael de la Torre, Susana Solá, Meritxell Pons‐Espinal et al. · Molecular Nutrition & Food Research · 2013 · 270 citations

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti et al. · The American Journal of Human Genetics · 2011 · 267 citations · Full text

Genetics, Recessive Hypomyelinating Leukodystrophy, Molecular Biology +5