119 citations · 122 across the 5 of their papers we have counts for
5 papers
Foundation-model-based multi-label phenotyping of combined hyperkinetic movement disorders
Laura Cif, Zohra Souei, Diane Demailly +13
Movement disorders (MDs) frequently co-occur, yet phenomenological and severity assessment shows substantial inter-rater variability. Markerless video could improve reproducibility…
Simultaneous hyperkinetic movement disorders phenotyping: a cross-cohort pediatric transfer study using routine videos, markerless pose estimation and a tabular foundation model
Laura Cif, Diane Demailly, Zohra Souei +11
Objective: To develop and externally test a video-based framework for simultaneous detection of hyperkinetic MDs phenomenologies: dystonia, tremor, myoclonus, chorea, athetosis, ba…
Deep Learning Pose Estimation for Multi-Label Recognition of Combined Hyperkinetic Movement Disorders
Laura Cif, Diane Demailly, Gabriella A. Horvàth +15
Hyperkinetic movement disorders (HMDs) such as dystonia, tremor, chorea, myoclonus, and tics are disabling motor manifestations across childhood and adulthood. Their fluctuating, i…
Freezing of Gait as a Complication of Pallidal Deep Brain Stimulation in DYT- KMT2B Patients with Evidence of Striatonigral Degeneration
Laura Cif, Diane Demailly, Xavier Vasques +4
Background: Mutations in KMT2B are a recognized cause of early-onset complex dystonia, with deep brain stimulation (DBS) of the internal globus pallidus (GPi-DBS) being an effectiv…
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…