Maximilian Breuer

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Robert Kopajtich, Kei Murayama, Andreas Janecke et al. · The American Journal of Human Genetics · 2016 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG

Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen et al. · Molecular Genetics and Metabolism · 2018 · 37 citations · Full text

Medicine, Biochemistry, Molecular Medicine +17

Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expression

Priyanka Jamadagni, Maximilian Breuer, Kathrin Schmeißer et al. · EMBO Reports · 2021 · 26 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +16

Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase

Matthias Zielonka, Maximilian Breuer, Jürgen G. Okun et al. · PLoS ONE · 2018 · 24 citations · Full text

Life Sciences, Neuroscience, Pharmacology +17

QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis

Maximilian Breuer, Luca Guglielmi, Matthias Zielonka et al. · PLoS ONE · 2019 · 18 citations · Full text

Life Sciences, Genetics, Neuroscience +17