Publications

Regal L et al. PREPL deficiency: delineation of the phenotype and development of a functional blood assay.Genet Med. 2018;20(1):109-118. PMID: 28726805.

Regal L et al. PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.Neurology. 2014;82(14):1254-60. PMID: 24610330.

Boonen K et al. PREPL, a prolyl endopeptidase-like enzyme by name only?­Lessons from patients.CNS Neurol Disord Drug Targets. 2011;10(3):355-60. PMID: 21222627.

Jaeken J et al. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am J Hum Genet. 2006;78(1):38-51. PMID: 16385448.