Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar AtaxiaDavid Pellerin, Matthis Synofzik, Adriana Rebelo et al.|New England Journal of Medicine|2022Cited by 243
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
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Curró, Chiara Gemelli, Natalia Dominik et al.|Brain|2024Cited by 28
<scp>Non‐GAA</scp> Repeat Expansions in <scp><i>FGF14</i></scp> Are Likely Not Pathogenic—Reply to: “<i>Shaking Up Ataxia</i>: <scp><i>FGF14</i></scp> and <scp><i>RFC1</i></scp> Repeat Expansions in Affected and Unaffected Members of a Chilean Family”David Pellerin, Henry Houlden, Pablo Iruzubieta et al.|Movement Disorders|2023Cited by 24
Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Bernard Brais, Jean‐Loup Méreaux et al.|medRxiv|2024Cited by 3