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Meulemans, Sandra

A5050912566 | I99464096

Mayo Clinic

KU Leuven

Citations 3

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

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