Nicolas Leboucq

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Jack J. Collier, Claire Guissart, Monika Oláhová et al. · New England Journal of Medicine · 2021 · 185 citations · Full text

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Gillian Rice, Naoki Kitabayashi, Magalie Barth et al. · Neuropediatrics · 2017 · 90 citations · Full text

Severe phenotypic spectrum of biallelic mutations in<i>PRRT2</i>gene

Marion Delcourt, Florence Riant, Josette Mancini et al. · Journal of Neurology Neurosurgery & Psychiatry · 2015 · 87 citations

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Claire Guissart, Xénia Latypova, Paul Rollier et al. · The American Journal of Human Genetics · 2018 · 81 citations · Full text

Molecular Neuroscience, Neurological Disorder, Genetic Disorder +13

Plagiocephaly: morphometry of skull base asymmetry

Guillaume Captier, Nicolas Leboucq, M. Bigorre et al. · Surgical and Radiologic Anatomy · 2003 · 69 citations

Gross Anatomy, Axial Skeleton, Skull Base Asymmetry +6