Work

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Year: 2026

Type: article

Abstract: Contains fulltext : 333520.pdf (Publisher’s version ) (Open Access)

Source: Movement Disorders Clinical Practice

DOI: 10.1002/mdc3.70531

Authors: Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev

Institutions: Radboud University Nijmegen, Ljubljana University Medical Centre, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, University of Ljubljana

Language: English

Topic: Neurological disorders and treatments

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,400

OpenAlex ID: W7123357706

FWCI:

Cites: 8

Cited by:

Related to: