Bruno Maranda

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

Fadi F. Hamdan, Julie Gauthier, Yoichi Araki et al. · The American Journal of Human Genetics · 2011 · 348 citations

Genes Associated, Genetic Disorder, Genetics +8

Molecular and clinical genetics of mitochondrial diseases due to<i>POLG</i>mutations

Lee-Jun Wong, Robert K. Naviaux, Nicola Brunetti‐Pierri et al. · Human Mutation · 2008 · 287 citations · Full text

Genetics, Molecular Genetics, Disease Gene Identification +18

Retinal lipid and glucose metabolism dictates angiogenesis through the lipid sensor Ffar1

Jean‐Sébastien Joyal, Ye Sun, Marin L. Gantner et al. · Nature Medicine · 2016 · 285 citations · Full text

Angiogenesis, Glucose Metabolism, Ophthalmology +10

Intra-endosomal pH-sensitive Recruitment of the Arf-nucleotide Exchange Factor ARNO and Arf6 from Cytoplasm to Proximal Tubule Endosomes

Bruno Maranda, Dennis Brown, Sylvain Bourgoin et al. · Journal of Biological Chemistry · 2001 · 142 citations · Full text

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec

Jean Larochelle, Fernando Álvarez, Jean‐François Bussières et al. · Molecular Genetics and Metabolism · 2012 · 139 citations

Clinical Course, Hepatology, Pharmacology +3