output
20212025
most citedKMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

119 citations

researchers with a paper here

Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.

collaborating institutions

4 papers

q-bio.NC2025★ 119 cited

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

L Cif, D Demailly, JP Lin +112

Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor feat…

math.OC2025

Wavelet-Based Multiscale Flow For Realistic Image Deformation in the Large Diffeomorphic Deformation Model Framework

Fleur Gaudfernau, Eléonore Blondiaux, Stéphanie Allassonnière +1

Estimating accurate high-dimensional transformations remains very challenging, especially in a clinical setting. In this paper, we introduce a multiscale parameterization of deform…

q-bio.NC2024

A simple EEG-based decision tool for neonatal therapeutic hypothermia in hypoxic-ischemic encephalopathy

Marc Fiammante, Anne-Isabelle Vermersch, Marie Vidailhet +1

Objective Accurate identification of hypoxic-ischemic brain injury in the early neonatal period is essential for initiating therapeutic hypothermia (TH) within 6 hours of birth to…

cond-mat.soft2021★ 27 cited

Acousto-elasticity of Transversely Isotropic Incompressible Soft Tissues: Characterization of Skeletal Striated Muscle

Jean-Pierre Remeniéras, Mahé Bulot, Jean-Luc Gennisson +3

Using shear wave elastography, we measure the changes in the wave speed with the stress produced by a striated muscle during isometric voluntary contraction. To isolate the behavio…