Luc Régal

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng et al. · Neurology · 2010 · 219 citations

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach et al. · The American Journal of Human Genetics · 2014 · 152 citations · Full text

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain

Berendine J. Ebbink, Esther Poelman, Femke K. Aarsen et al. · Developmental Medicine & Child Neurology · 2018 · 104 citations · Full text

The G93C Mutation in Superoxide Dismutase 1

Luc Régal, Ludo Vanopdenbosch, Petra Tilkin et al. · Archives of Neurology · 2006 · 81 citations