L. Laugwitz

发表

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

S. Groeschel, V. Gieselmann, G. Bruchelt, 2022, JIMD reports.

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

T. Meitinger, T. Strom, H. Prokisch, 2018, American journal of human genetics.

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

S. Groeschel, I. Krägeloh-Mann, M. Spraul, 2022, JIMD reports.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

E. Bertini, R. Carrozzo, H. Prokisch, 2022, American journal of human genetics.

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

H. Prokisch, T. Haack, S. Boesch, 2020, European journal of medical genetics.

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

S. Mane, T. Nägele, T. Meitinger, 2020, American journal of human genetics.

Human organoid model of PCH2a recapitulates brain region-specific pathology

L. Schöls, S. Groeschel, I. Krägeloh-Mann, 2022, bioRxiv.

Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.

L. Schöls, S. Groeschel, I. Krägeloh-Mann, 2022, Molecular genetics and metabolism.

Bi‐Allelic COQ4 Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease

D. Timmann, N. Brüggemann, M. Synofzik, 2022, Movement disorders : official journal of the Movement Disorder Society.

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

P. Clayton, G. Schwarz, D. Martinelli, 2022, Redox biology.

Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?

S. Groeschel, I. Krägeloh-Mann, M. Sturm, 2020, European journal of medical genetics.

Genetic basis of neurodevelopmental disorders in 103 Jordanian families

P. Bauer, M. Sturm, O. Riess, 2020, Clinical genetics.

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

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

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

C. Bönnemann, T. Lehky, H. Lochmüller, 2020, American journal of medical genetics. Part A.

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

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

R. Banerjee, T. Haack, D. Dimmock, 2020, Journal of inherited metabolic disease.

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

G. Vasco, S. Groeschel, A. Caglayan, 2021, Journal of Medical Genetics.

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

B. Bender, G. Vasco, A. Durr, 2020, Annals of neurology.

Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders

B. Chung, E. Mayatepek, F. Distelmaier, 2023, Antioxidants.

MR-spectroscopy in metachromatic leukodystrophy: A model free approach and clinical correlation

U. Klose, S. Groeschel, I. Krägeloh-Mann, 2022, NeuroImage: Clinical.

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22

D. Wieczorek, M. Sturm, T. Haack, 2018, Klinische Pädiatrie.

Hematopoietic stem cell transplantation with mesenchymal stromal cells in children with metachromatic leukodystrophy.

S. Groeschel, I. Krägeloh-Mann, R. Handgretinger, 2022, Stem cells and development.

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

S. Groeschel, S. Hauser, W. Janzarik, 2024, Disease models & mechanisms.

Human organoid model of PCH2a recapitulates brain region-specific pathology

S. Groeschel, S. Hauser, W. Janzarik, 2023, bioRxiv.

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

Tzung-Chien Hsieh, S. Efthymiou, R. Maroofian, 2024, Brain : a journal of neurology.

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

V. Calbi, A. Zerem, Hanka Dekker, 2024, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.