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Nature Genetics|June 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locusDavid Pellerin, Giulia F Del Gobbo, Madeline Couse, et al.Journal of Neurology|June 17, 2024
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohortSara Satolli, Salvatore Rossi, Elisa Vegezzi, et al.Ebiomedicine|December 27, 2023
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsJean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, et al.The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|June 5, 2020
A National Spinal Muscular Atrophy Registry for Real-World EvidenceVictoria L Hodgkinson, Maryam Oskoui, Joshua Lounsberry, et al.Brain : a Journal of Neurology|April 16, 2025
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophyViorica Chelban, David Pellerin, Nirosen Vijiaratnam, et al.The New England Journal of Medicine|December 14, 2022
Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar AtaxiaDavid Pellerin, Matt C Danzi, Carlo Wilke, et al.The Journal of Clinical Endocrinology and Metabolism|October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.Pageof 19