119 citations · 119 across the 3 of their papers we have counts for
3 papers
q-bio.QM2026
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…
cs.CV2026
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…
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…