The FGF14-SCA27B GAA•TTC Repeat Shows a Marked Somatic Expansion Bias in the Cerebellum (S4.004)
To study the somatic instability profile of the FGF14 GAA•TTC repeat across serial blood samples, fibroblasts, induced pluripotent stem cells (iPSCs), and post-mortem brains.
Authors
- Susana Boluda
- Jillian M. Hammond (ORCID: https://orcid.org/0000-0002-4045-4571)
- Laura Molina‐Porcel (ORCID: https://orcid.org/0000-0003-4068-8578)
- M. Renaud (ORCID: https://orcid.org/0000-0002-2203-4880)
- Alexandra Dürr (ORCID: https://orcid.org/0000-0002-8921-7104)
- Alexis Brice (ORCID: https://orcid.org/0000-0002-0941-3990)
- Bernard Brais (ORCID: https://orcid.org/0000-0003-1394-3561)
- Stephan Züchner (ORCID: https://orcid.org/0000-0002-8498-5235)
- Jean‐Loup Méreaux (ORCID: https://orcid.org/0000-0002-4279-7252)
- Matt C. Danzi (ORCID: https://orcid.org/0000-0003-1568-5965)
- Danielle Seilhean (ORCID: https://orcid.org/0000-0003-3498-4602)
- David Pellerin (ORCID: https://orcid.org/0000-0002-5807-995X)
- Jill S. Napierala (ORCID: https://orcid.org/0000-0002-5141-0822)
- Céline Bonnet (ORCID: https://orcid.org/0000-0002-6799-0438)
- Марек Напиерала (ORCID: https://orcid.org/0000-0002-9987-0641)
- Ira W. Deveson (ORCID: https://orcid.org/0000-0003-3861-0472)
- Guinevere Spurdens
- Brandon J. Gerhart
- Marie‐Josée Dicaire
- Claire-Sophie Davoine
- David Genı́s
Institutions
- Garvan Institute of Medical Research (AU)
- University of Miami (US)
- Sorbonne Université (FR)
- Hospital Santa Caterina (ES)
- Southwestern Medical Center (US)
- Laboratoire Médiations (FR)
- McGill University (CA)
- Universitat de Barcelona (ES)
- The University of Texas Southwestern Medical Center (US)
- Université de Lorraine (FR)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000208500
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00