Concepedia

Diane Demailly

DD

Statistics

Publications

6

Citations

343

H-Index

6

Active since

2018

Affiliations

Hôpital Gui de Chauliac(Current)

Université de Montpellier

Inserm

Hôpital Armand-Trousseau

University College London

Diane Demailly is an author at Hôpital Gui de Chauliac specializing in neurology, dystonia syndromes, and movement disorder genetics.

Publications per year

2018–2022

6

Publications

6

<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 · 115 citations · Full text

, , +13

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 · 110 citations · Full text

, , +17

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

Thomas Wirth, Giacomo Garone, Manju A. Kurian et al. · Movement Disorders · 2022 · 59 citations · Full text

, , +12

Deep brain stimulation treated dystonia‐trajectory via status dystonicus

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

, , +14

Childhood‐onset progressive dystonia associated with pathogenic truncating variants in <i>CHD8</i>

Diane Doummar, Marco Treven, Leila Qebibo et al. · Annals of Clinical and Translational Neurology · 2021 · 12 citations · Full text

, , +16

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