Children's Hospital at Westmead

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

119 citations

researchers with a paper here

Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.

D. Catchpoole2 · h 26
Katarzyna Musial2 profiles2 · h 32
M. Bandara2 · h 9
Paul J. Kennedy2 profiles2 · h 4
Adrian Caruana1 · h 2
Adrian Wilkins-Caruana1 · h 1

collaborating institutions

University of Technology SydneyAU2 papers
Aarhus University HospitalDK1 paper
Ain Shams University HospitalEG1 paper
Assistance Publique – Hôpitaux de ParisFR1 paper
Belfast Health and Social Care TrustGB1 paper
Birkbeck, University of LondonGB1 paper
Boston Children's HospitalUS1 paper
Brigham and Women's HospitalUS1 paper
Brooke Army Medical CenterUS1 paper
Cairo University hospitalsEG1 paper
Cambridge University Hospitals NHS Foundation TrustGB1 paper
Centre d’Etudes Politiques Et sociaLesFR1 paper

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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…