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

David Pellerin(Montreal Neurological Institute and Hospital), Matthis Synofzik(German Center for Neurodegenerative Diseases), Bernard Brais(Montreal Neurological Institute and Hospital), Stephan Züchner(University of Miami), Matt C. Danzi(University of Miami), Alexanne Cuillerier(University of Ottawa), Dan Rujescu(Martin Luther University Halle-Wittenberg), Annette M. Hartmann(Duke University), Kym M. Boycott(Children's Hospital of Eastern Ontario), Andreas Traschütz(German Center for Neurodegenerative Diseases), Giulia Gobbo(University of Ottawa), Carlo Wilke(German Center for Neurodegenerative Diseases), Catherine Ashton(Royal Perth Hospital), Marie‐Josée Dicaire(Institute of Human Genetics), Felix Heindl(Ludwig-Maximilians-Universität München), Michael Strupp(Ludwig-Maximilians-Universität München), Jens Claaßen(Essen University Hospital)
EBioMedicine
March 19, 2024
Cited by 63


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