Lucia Laugwitz

University of Tübingen

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Articles (18)

Collaborators (7)

Ludger Schöls

Section head

Eberhard Karls Universität Tübingen

Samuel Groeschel

University Children's Hospital

Julian Schröter

Heidelberg University

Marc Sturm

Head of Bioinformatics for Diagnostics

Universitätsklinikum Tübingen

Michaela Döring

Ingo Müller

University Medical Center Hamburg-Eppendorf

Karin Melanie Cabanillas Stanchi

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Lucia Laugwitz

Research Interests

Explore related searches

Contact this professor

Articles (18)

Collaborators (7)

Ludger Schöls

Samuel Groeschel

Julian Schröter

Marc Sturm

Michaela Döring

Ingo Müller

Karin Melanie Cabanillas Stanchi

Make your next move.

Lucia Laugwitz

Research Interests

Explore related searches

Contact this professor

Articles (18)

Brain morphometry and psychomotor development in children with PCH2A

Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS

Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy

Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature

Hematopoietic Stem Cell Transplantation with Mesenchymal Stromal Cells in Children with Metachromatic Leukodystrophy.

Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.

Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.

Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.

Collaborators (7)

Ludger Schöls

Samuel Groeschel

Julian Schröter

Marc Sturm

Michaela Döring

Ingo Müller

Karin Melanie Cabanillas Stanchi

Make your next move.