119 citations · 122 across the 2 of their papers we have counts for
2 papers
q-bio.NC2025★ 3 cited
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…
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…