The road towards implementation of TMEM106B genetic testing in clinical practice in progranulin pathogenic variant carriers (P3-3.020)
Through characterization of the TMEM106B haplotype in large well-characterized cohorts of GRN pathogenic variant carriers, we aim to provide support for implementation of TMEM106B genetic testing in GRN pathogenic variant carriers in clinical testing.
Authors
- Hilary W. Heuer (ORCID: https://orcid.org/0000-0002-3776-1685)
- Howard Rosen
- Marijne Vandebergh (ORCID: https://orcid.org/0000-0001-9645-2615)
- Bradley Boeve
- Saira Saeed Mirza (ORCID: https://orcid.org/0000-0002-0973-2246)
- Daniel Geschwind
- Rosa Rademakers (ORCID: https://orcid.org/0000-0002-4049-0863)
- Jonathan D. Rohrer (ORCID: https://orcid.org/0000-0002-6155-8417)
- Leah K. Forsberg (ORCID: https://orcid.org/0000-0003-4086-9598)
- Ekaterina Rogaeva
- Eliana Marisa Ramos (ORCID: https://orcid.org/0009-0003-7982-4415)
- Adam Boxer
- Mario Masellis
- Lucy Chisman‐Russell
Institutions
- Sunnybrook Health Science Centre (CA)
- Mayo Clinic (US)
- University of Antwerp (BE)
- University of California, Los Angeles (US)
- University of California, San Francisco (US)
- University of Toronto (CA)
- Discovery Centre (CA)
- Health Sciences Centre (CA)
- Mayo Clinic in Arizona (US)
- UK Dementia Research Institute (GB)
- VIB-UAntwerp Center for Molecular Neurology (BE)
- National Hospital for Neurology and Neurosurgery (GB)
- Sunnybrook Research Institute
- University College London (GB)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000210476
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00