Diane Demailly

Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Dora Steel, Michael Zech, Chen Zhao et al. · Annals of Neurology · 2020 · 106 citations · Full text

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin et al. · Brain · 2020 · 94 citations · Full text

Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp>

Thomas Wirth, Giacomo Garone, Manju A. Kurian et al. · Movement Disorders · 2022 · 58 citations · Full text

Deep brain stimulation treated dystonia‐trajectory via status dystonicus

Elodie Nerrant, Victoria González, Christophe Milési et al. · Movement Disorders · 2018 · 35 citations

Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease

Laura Cif, Diane Demailly, Claire Gehin et al. · Molecular Genetics and Metabolism · 2022 · 10 citations · Full text