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 · 213 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +10

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 · 208 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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 · 167 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 166 citations · Full text

Life Sciences, Cardiology, Genetics +16

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 · 163 citations

Life Sciences, Cardiology, Genetics +13