Lucia Laugwitz

9PUBLICATIONS
89CO-AUTHORS
Gene mappingEpidemiological methodsEpigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)Neonatology
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Publications (9)

|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

|Dec 12, 2024
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.

Ann-Sophie Kiesel, Lucia Laugwitz, Rebecca Buchert

|Sep 18, 2024
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy.

Lucia Laugwitz, Thomas P Mechtler, Nils Janzen

|Jul 22, 2024
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences.

Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva

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