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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 10, 2026
European expert recommendations for comprehensive pre-treatment, treatment-phase and post-treatment care of patients with metachromatic leukodystrophy treated with autologous haematopoietic stem and progenitor cell gene therapyLucia Laugwitz, Francesca Fumagalli, Katharina Wehner, et al.
American Journal of Medical Genetics. Part A|August 11, 2020
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndromeSandra Donkervoort, Payam Mohassel, Lucia Laugwitz, et al.
Cytotherapy|April 13, 2024
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United StatesLaura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, et al.
Journal of Medical Genetics|October 17, 2021
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypesLucia Laugwitz, Annette Seibt, Diran Herebian, et al.
Neurology|June 27, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research DirectionsMarije A B C Asbreuk, Daphne H Schoenmakers, Laura Ann Adang, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
Annals of Neurology|April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 7, 2025
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophyDaphne H Schoenmakers, Marije A B C Asbreuk, Tamara Martin, et al.
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