Maximilian Breuer

Maximilian Breuer

Universität Potsdam - Potsdam / Germany
Natural Sciences / Biological Science
AD Scientific Index ID: 4574768
University of Potsdam
person_outline Maximilian Breuer's MOST POPULAR ARTICLES
1-) Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathyR Kopajtich, K Murayama, AR Janecke, TB Haack, M Breuer, AS Knisely, ...The American Journal of Human Genetics 99 (2), 414-422, 2016682016
2-) Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDGB Dimitrov, N Himmelreich, ALH Ederveen, C Lüchtenborg, JG Okun, ...Molecular genetics and metabolism 123 (3), 364-374, 2018282018
3-) Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferaseM Zielonka, M Breuer, JG Okun, M Carl, GF Hoffmann, S KölkerPLoS One 13 (9), e0203707, 2018272018
4-) Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine …N Himmelreich, B Dimitrov, V Geiger, M Zielonka, AM Hutter, L Beedgen, ...Human mutation 40 (7), 938-951, 2019212019
5-) Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expressionP Jamadagni, M Breuer, K Schmeisser, T Cardinal, B Kassa, JA Parker, ...EMBO reports 22 (6), e50958, 2021182021