Institut für Neuropathologie
Präsidium der Justus-Liebig-Universität Gießen » Fachbereiche » Fachbereich 11 - Humanmedizin » Dekanat Fachbereich 11 - Humanmedizin » Zentrum für Pathologie und Neuropathologie
Organisationstyp: Institut
Publikationen 
1 von 12 
1 von 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)Cardiomyocyte hyperplasia and immaturity but not hypertrophy are characteristic features of patients with RASopathies (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)Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking (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. - 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 (2023)
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.
