High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic

Penn, D., Amir, Y., David, G. B., Kuralop, A., Barel, D., Hamiel, U., Bach, M., Elhanan, E., Barkan, T., Marom, D., Mory, A., Simantov, N., Eshed, G. M., Faust‐Socher, A., Livneh, V., Thaler, A., Omer, N., Shiner, T., Giladi, N., … Ponger, P. (2025). High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single‐Center Neurogenetics Clinic. Movement Disorders Clinical Practice. Portico. https://doi.org/10.1002/mdc3.70145
Authors:
Dvir Penn
Yam Amir
Gil Ben David
Alina Kuralop
Dalit Barel
Uri Hamiel
Michal Bach
Emil Elhanan
Tali Barkan
Daphna Marom
Adi Mory
Noga Simantov
Gadi Maayan Eshed
Achinoam Faust-Socher
Vered Livneh
Avner Thaler
Nurit Omer
Tamara Shiner
Nir Giladi
Tanya Gurevich
Hagit Baris Feldman
Roy N Alcalay
Yuval Yaron
Penina Ponger
Affiliated Authors:
Roy N Alcalay
Columbia Affiliation:
Subjects:
Molecular Mechanisms of Neurodegenerative Diseases (OpenAlex Topic)
Genetic Basis of Neuropathies and Related Disorders (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Author Keywords:
neurogenetics
cerebellar ataxia
dystonia
hereditary spastic paraparesis
paroxysmal dyskinesia
elink
Publication Type:
Article
Unique ID:
10.1002/mdc3.70145
PMID:
40470849
DOI:
10.1002/mdc3.70145
Journal:
Movement Disorders Clinical Practice
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View OpenAlex Record

Record Created: