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Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Matthis Synofzik, Willem De Ridder et al.|Annals of Neurology|2020Cited by 77
As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia CohortHolger Hengel, Matthis Synofzik, Tobias B. Haack et al.|Movement Disorders|2023Cited by 65
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortDavid Pellerin, Matthis Synofzik, Felix Heindl et al.|EBioMedicine|2024Cited by 63
Intronic<i>FGF14</i>GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathyDavid Pellerin, Matthis Synofzik, Héctor García‐Moreno et al.|Journal of Neurology Neurosurgery & Psychiatry|2023Cited by 45