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March 19, 2024EBioMedicine68 citationsOpen Access

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

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DPDavid PellerinUniversité de SherbrookeFHFelix HeindlComprehensive Cancer Center ErlangenCWCarlo WilkeThe Nature Conservancy

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Abstract

GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA)

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Pellerin et al. (2024) studied this question.

synapsesocial.com/papers/68e734edb6db6435876ae2a9https://doi.org/10.1016/j.ebiom.2024.105076
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