119 citations
Counting papers with at most 25 authors, so collaboration author lists do not stand in for the people here.
- Assistance Publique – Hôpitaux de ParisFR2 papers
- InsermFR2 papers
- Sorbonne UniversitéFR2 papers
- Université de MontpellierFR2 papers
- Aarhus University HospitalDK1 paper
- Ain Shams University HospitalEG1 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
2 papers
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…
q-bio.NC2022★ 22 cited
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations
Fábio Carneiro, Dario Saracino, Vincent Huin +17
Introduction: A phenotype of isolated parkinsonism mimicking Idiopathic Parkinson's Disease (IPD) is a rare clinical presentation of GRN and C9orf72 mutations, the major genetic ca…