Screening for Genetic Mutations in a Midwest ALS Clinic and Assessing Disease Trajectory in Patients with Motor Neuron Disease (P12-11.006)
To describe the frequency of pathogenic mutations and variants of unknown significance (VUS) in a Midwest population cohort of amyotrophic lateral sclerosis (ALS), and compare to gene-negative patients.
Authors
- Matthew Varon
- Constantine Farmakidis (ORCID: https://orcid.org/0000-0002-4668-9224)
- S. Faisal Ahmed (ORCID: https://orcid.org/0000-0003-0689-5549)
- Mazen M. Dimachkie (ORCID: https://orcid.org/0000-0002-7148-989X)
- Mamatha Pasnoor (ORCID: https://orcid.org/0000-0001-7424-4719)
- Omar Jawdat
- Andrew J. Heim
- Jeffrey Statland (ORCID: https://orcid.org/0000-0003-0790-5315)
- Katheryn Lillig
Institutions
- University of Kansas Medical Center (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000211179
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00