Institut für Neuropathologie
Präsidium der Justus-Liebig-Universität Gießen » Fachbereiche » Fachbereich 11 - Humanmedizin » Dekanat Fachbereich 11 - Humanmedizin » Zentrum für Pathologie und Neuropathologie
Type of organisation: Institute
Publications 
1 of 12 
1 of 12
- Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4) (2024)2023)
Umathum, Vincent; Weber, Axel; Amsel, Daniel; et al. - A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function (2023)
Hentschel, Andreas; Meyer, Nancy; Kohlschmidt, Nicolai; et al. - A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function (MAR, 10.1007/s12035-023-03219-9, 2023) (2023)
Hentschel, Andreas; Meyer, Nancy; Kohlschmidt, Nicolai; et al. - Cardiomyocyte hyperplasia and immaturity but not hypertrophy are characteristic features of patients with RASopathies (2023)
Drenckhahn, Joerg-Detlef; Nicin, Luka; Akhouaji, Sara; et al. - Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking (2023)
Swan, Alexander H.; Schindler, Roland F. R.; Savarese, Marco; et al. - Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking (vol 11, 4, 2023) (2023)
Swan, Alexander H.; Schindler, Roland F. R.; Savarese, Marco; et al. - Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model
Rohm, Marlena; Volke, Leon; Schlaffke, Lara; et al. - Gadolinium contrast agents: dermal deposits and potential effects on epidermal small nerve fibers (2023)
Kraemer, Heidrun H.; Buecker, Patrick; Jeibmann, Astrid; et al. - Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants (2023)
Weis, Angelika; Krueck, Svenja; Dombrowsky, Gregor; et al. - Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues (2023)
Nakhaei-Rad, Saeideh; Haghighi, Fereshteh; Bazgir, Farhad; et al.
