261 citations
Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.
- University College LondonGB15 papers
- King's College LondonGB3 papers
- MRC Biostatistics UnitGB3 papers
- University of CambridgeGB3 papers
- University of IbadanNG3 papers
- Guy's and St Thomas' NHS Foundation TrustGB2 papers
- Hôpital Gui de ChauliacFR2 papers
- Institut Necker Enfants MaladesFR2 papers
- University of EdinburghGB2 papers
- Aarhus University HospitalDK1 paper
- Ain Shams University HospitalEG1 paper
- Assistance Publique – Hôpitaux de ParisFR1 paper
Showing q-bio.NCShow all
2 papers · 1 filter
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…