Ulrich Schatz

9PUBLICATIONS
146CO-AUTHORS
Neurology and neuromuscular diseasesImmunogenetics (incl. genetic immunology)Epigenetics (incl. genome methylation and epigenomics)NeonatologyMolecular medicine
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Publications (9)

|Apr 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

|Jan 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Céline Jost, Tiffany Busa, Daniel Wegner

|Oct 24, 2025
Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.

Eva Thimm, Anselma Riederer, Jerry Vockley

|Oct 04, 2025
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders.

Theresa Brunet, Michael Zech, Ulrich A Schatz

|Sep 26, 2025
Characterization of Neonatal Seizures in a Large Well-defined Multicenter Cohort of a Tertiary Neonatology Center in Germany.

Verena Kraus, Ulrich Schatz, Marcus Krüger

|Dec 23, 2024
Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.

Alina Kurolap, Chofit Chai Gadot, Orly Eshach Adiv

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Frequent Collaborators

3 joint publications

Suzanne Lesage

3 joint publications

Ayşe Nazlı Başak

3 joint publications

Andrey Y Abramov

3 joint publications

Dario R Alessi