output
20192026
most citedKMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

119 citations

5 papers

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…

eess.IV2023★ 21 cited

Improved Automatic Diabetic Retinopathy Severity Classification Using Deep Multimodal Fusion of UWF-CFP and OCTA Images

Mostafa El Habib Daho, Yihao Li, Rachid Zeghlache +12

Diabetic Retinopathy (DR), a prevalent and severe complication of diabetes, affects millions of individuals globally, underscoring the need for accurate and timely diagnosis. Recen…

physics.chem-ph2021★ 38 cited

Building intuition for binding free energy calculations: bound state definition, restraints, and symmetry

Elise Duboué-Dijon, Jérôme Hénin

The theory behind computation of absolute binding free energies using explicit-solvent molecular simulations is well-established, yet somewhat complex, with counter-intuitive aspec…

q-bio.BM2019★ 38 cited

Visualizing biomolecular electrostatics in virtual reality with UnityMol-APBS

Joseph Laureanti, Juan Brandi, Elvis Offor +6

Virtual reality is a powerful tool with the ability to immerse a user within a completely external environment. This immersion is particularly useful when visualizing and analyzing…