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Régal, Luc

https://orcid.org/0000-0001-8231-5767

A5009424933 | I2800231306

Universitair Ziekenhuis Leuven

Citations 4

A Spontaneously Resolving Pyridostigmine Responsive Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency (S45.004)

Neurology | December 7, 2023 | Volume: 80 | Issue: 7_supplement | Pages: No page available

10.1212/wnl.80.7_supplement.s45.004

A Spontaneously Resolving Pyridostigmine Responsive Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency (IN1-1.001)

Neurology | December 7, 2023 | Volume: 80 | Issue: 7_supplement | Pages: No page available

10.1212/wnl.80.7_supplement.in1-1.001

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Human Mutation | March 2, 2016 | Volume: 37 | Issue: 7 | Pages: 653-660

10.1002/humu.22983 | PMID 26931382

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome

Neurology | March 8, 2014 | Volume: 82 | Issue: 14 | Pages: 1254-1260

10.1212/wnl.0000000000000295 | PMID 24610330