Gilles Millat

Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

Gilles Millat, Christophe Marçais, Catherine Tomasetto et al. · The American Journal of Human Genetics · 2001 · 212 citations · Full text

Npc1 Mutations, Signal Transduction, Npc1 Protein +7

Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype

Gilles Millat, Christophe Marçais, Mohammad A. Rafi et al. · The American Journal of Human Genetics · 1999 · 204 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +12

Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

Gilles Millat, Karim Chikh, Saule Naureckiene et al. · The American Journal of Human Genetics · 2001 · 166 citations · Full text

Mendelian Disorder, Npc2 Group, Genetic Disorder +12

Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel

Hui Liu, Stéphanie Chatel, Christophe Simard et al. · PLoS ONE · 2013 · 162 citations · Full text

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

Gilles Millat, Patrice Bouvagnet, Philippe Chevalier et al. · European Journal of Medical Genetics · 2010 · 160 citations

Cardiomyopathy, Unrelated Patients, Cardiovascular Disease +9