Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar AtaxiaDavid Pellerin, Matthis Synofzik, Joshua A. Sonnen et al.|New England Journal of Medicine|2022Cited by 243
GAA-<i>FGF14</i> ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment responseCarlo Wilke, Matthis Synofzik, David Pellerin et al.|Brain|2023Cited by 114
As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia CohortHolger Hengel, Matthis Synofzik, David Pellerin 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, Carlo Wilke et al.|Journal of Neurology Neurosurgery & Psychiatry|2023Cited by 45