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 · 351 citations

Life Sciences, Genetics, Neuroscience +17

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 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 291 citations · Full text

Life Sciences, Biochemistry, Ophthalmology +13

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

Julie Legault, Laura Strittmatter, Jessica Tardif et al. · Cell Reports · 2015 · 151 citations · Full text

Life Sciences, Biochemistry, Genetics +17

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

Life Sciences, Cell Biology, Molecular Biology +17