Antoine Bonnevalle

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Viorica Chelban, Henriette Aksnes, Reza Maroofian et al. · Nature Communications · 2024 · 43 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening

Gaël Nicolas, Aline Zaréa, Morgane Lacour et al. · Genetics in Medicine · 2024 · 23 citations · Full text

Life Sciences, Genetics, Neurology +17

Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers

David Wallon, Susana Boluda, Anne Rovelet‐Lecrux et al. · Acta Neuropathologica · 2021 · 19 citations

Life Sciences, Neurology, Neuroscience +14

Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder

François Lecoquierre, Antoine Bonnevalle, Alexandra Chadie et al. · American Journal of Medical Genetics Part A · 2019 · 14 citations

Life Sciences, Genetics, Molecular Genetics +16