Lucia Laugwitz
9PUBLICATIONS
89CO-AUTHORS
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Publications (9)
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|Feb 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.Benita Menden, Rana D Incebacak Eltemur, German Demidov
|Nov 24, 2025
Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review.Lucia Laugwitz, Andrew Shenker, Erica F Sluys
|Aug 02, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.Shanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli
|Jul 22, 2024
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences.Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva
|Feb 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.Lucia Laugwitz, Fubo Cheng, Stephan C Collins
|Jul 13, 2022
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature.Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker
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Frequent Collaborators
2 joint publications
Susana Peralta
2 joint publications
Holger Hengel
2 joint publications
Matthis Synofzik
2 joint publications
Peter Krawitz
2 joint publications
Ludger Schöls
2 joint publications
Samuel Groeschel
1 joint publications
Stephanie Efthymiou
1 joint publications
Saeid Sadeghian
1 joint publications
Henry Houlden
1 joint publications
Binnaz Yalcin
