Author
University of MiamiORCID 0009-0000-5333-5857Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Felix Gsell, David Pellerin, O Vinogradov…·Matthis Synofzik
This study shows that SynTEF1 restores FGF14 expression and neuronal function in SCA27B patient-derived neurons.
David Pellerin, Jean‐Loup Méreaux, Susana Boluda…·Bernard Brais
This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.
Adriana P. Rebelo, Clemer Abad, Maike Franziska Dohrn…·Stephan L. Zuchner
This study generates a Sord knockout rat model to study SORD deficiency, revealing motor-predominant neuropathy with elevated sorbitol and neurofilament light chain levels.