Phenotype Description and Lower Pathogenicity Threshold in a Large Cohort of SCA27B (P6-5.028)
To describe a large cohort of patients with pathogenic expansions in FGF14 from Quebec, Canada.
Authors
- Mayra Aldecoa
- Roberta La Piana (ORCID: https://orcid.org/0000-0002-4207-5065)
- François Evoy
- Antoine Duquette (ORCID: https://orcid.org/0000-0002-8313-4068)
- M. Renaud (ORCID: https://orcid.org/0000-0002-2203-4880)
- Matt C. Danzi (ORCID: https://orcid.org/0000-0003-1568-5965)
- David Pellerin (ORCID: https://orcid.org/0000-0002-5807-995X)
- Pablo Iruzubieta (ORCID: https://orcid.org/0000-0003-0331-6222)
- Rami Massie (ORCID: https://orcid.org/0000-0001-8219-1020)
- Jessy Brisson
- Kym M. Boycott (ORCID: https://orcid.org/0000-0003-4186-8052)
- Colin Chalk
- Jean Mathieu (ORCID: https://orcid.org/0000-0002-2597-9708)
- Catherine Ashton
- Marie‐Josée Dicaire
- Bernard Brais
- Stephan Züchner (ORCID: https://orcid.org/0000-0001-5669-7415)
- Anne‐Louise Lafontaine
- Marie‐France Rioux
Institutions
- Montreal Neurological Institute and Hospital (CA)
- Université de Sherbrooke (CA)
- University of Miami (US)
- Agricultural Research Institute of Ontario (CA)
- Montreal General Hospital (CA)
- Hôpital Fleurimont (CA)
- Centre Hospitalier Régional et Universitaire de Nancy (FR)
- Dr. John T. Macdonald Foundation (US)
- Centre Hospitalier de l’Université de Montréal (CA)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000211631
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00