Peter Bauer

Centogene (Germany) — Germany

Neuroscience · Life Sciences

46h-index8.9kcitations215works6.92yr avg
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Research Topics

Genetic Neurodegenerative Diseases(52), Mitochondrial Function and Pathology(38), Studies on Chitinases and Chitosanases(27), Parkinson's Disease Mechanisms and Treatments(23), MicroRNA in disease regulation(21)

Publications213 total

The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency
Brain·2025Open Access
Expanding the Genetic and Phenotypic Spectrum of <scp>DYT</scp> ‐ <scp> <i>VPS16</i> </scp> : The Importance of Splice‐Site Variants
Movement Disorders·2025· 2 citedOpen Access
<scp> <i>RAB32</i> </scp> ‐Linked Parkinson's Disease: Deep Phenotyping, <scp>MDSGene</scp> Literature Review, and Application of <scp>SynNeurGe</scp> Criteria
Movement Disorders·2025· 1 citedOpen Access
Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with monogenic and idiopathic Parkinson’s disease
2025· 1 citedOpen Access
The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
npj Parkinson s Disease·2025· 3 citedOpen Access
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
The American Journal of Human Genetics·2025· 4 citedOpen Access
Plasma Glucosylceramide Levels Are Regulated by <scp><i>ATP10D</i></scp> and Are Not Involved in Parkinson's Disease Pathogenesis
Annals of Neurology·2025· 3 citedOpen Access
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans
The American Journal of Human Genetics·2025· 5 citedOpen Access
A Simplified Method for Evaluating Chitin-Binding Activity Applied to YKL-40 (HC-gp39, CHI3L1) and Chitotriosidase
Molecules·2024· 1 citedOpen Access
Hyperactivation of human acidic chitinase (Chia) for potential medical use
Journal of Biological Chemistry·2024Open Access
Exploring environmental modifiers of LRRK2-associated Parkinson’s disease penetrance: An exposomics and metagenomics pilot study on household dust
Environment International·2024· 2 citedOpen Access
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
The American Journal of Human Genetics·2024· 1 citedOpen Access
Genetic and Epidemiological Insights into <scp><i>RAB32</i></scp>‐Linked Parkinson's Disease
Movement Disorders·2024· 9 citedOpen Access
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations
Nature Genetics·2024· 9 citedOpen Access
Exploring Environmental Modifiers of LRRK2-Associated Parkinson’s Disease Penetrance through Exposomics and Metagenomics of Household Dust
2024Open Access
Evolutionary insights into sequence modifications governing chitin recognition and chitinase inactivity in YKL-40 (HC-gp39, CHI3L1)
Journal of Biological Chemistry·2024· 10 citedOpen Access
Exploring Environmental Modifiers of Lrrk2-Associated Parkinson's Disease Penetrance Through Exposomics and Metagenomics of Household Dust
SSRN Electronic Journal·2024Open Access
Author response for "The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children"
2023
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L
The Cerebellum·2023· 8 citedOpen Access
Reader Response: <i>D313Y</i> Variant in Fabry Disease: A Systematic Review and Meta-analysis
Neurology·2023Open Access
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Frequent Co-authors

Lüdger Schöls(12), Alexandra Dürr(7), Dagmar Timmann(7), Thomas Klockgether(7), Nobuyuki Nukina(7), Olaf Rieß(6), Tania F. Gendron(6), Dennis W. Dickson(6), Leonard Petrucelli(6), Heike Jacobi(6), Sophie Tézenas du Montcel(6), Caterina Mariotti(6), Maria Rakowicz(6), Béla Melegh(6), Alessandro Filla(6), Sylvia Boesch(6), Rosa Rademakers(5), Perrine Charles(5), László Balikó(5), Jon Infante(5)