Morgane Stum

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Valérie Pelletier, Marguerite Jambou, Nathalie Delphin et al. · Human Mutation · 2006 · 129 citations · Full text

Impaired protein translation in Drosophila models for Charcot–Marie–Tooth neuropathy caused by mutant tRNA synthetases

Sven Niehues, Julia Bussmann, Georg Steffes et al. · Nature Communications · 2015 · 127 citations · Full text

The integrated stress response contributes to tRNA synthetase–associated peripheral neuropathy

Emily L. Spaulding, Timothy J. Hines, Preeti Bais et al. · Science · 2021 · 118 citations · Full text

Spectrum of<i>HSPG2</i>(Perlecan) mutations in patients with Schwartz-Jampel syndrome

Morgane Stum, Claire-Sophie Davoine, Savine Vicart et al. · Human Mutation · 2006 · 104 citations

Hspg2 Gene, Mendelian Disorder, Schwartz-jampel Syndrome +11

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

Morgane Stum, Heather M. McLaughlin, Erica L. Kleinbrink et al. · Molecular and Cellular Neuroscience · 2010 · 68 citations · Full text

Developmental Biology, Molecular Neuroscience, Peripheral Axonal Degeneration +8