Institute of Neuropathology

R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy (2025) Batonnet-Pichon S, Delort F, Lilienbaum A, Berwanger C, Schultheis D, Schlötzer-Schrehardt U, Schmidt A, et al. Journal article Utility of MR fingerprinting in differentiating epileptogenic from non-epileptogenic cortical malformations (2025) Kochi R, Su TY, Punia V, Morris S, Murakami H, Wang X, Blümcke I, et al. Journal article Quantification of Exercise-Induced Sarcomeric Damage in R349P Desmin Knock-In Mice: A New Approach in Myofibrillar Myopathy Research (2025) Holtzhausen C, Schultheis D, Berwanger C, Schuld J, Schlötzer-Schrehardt U, Riehl-Nestler M, Batonnet-Pichon S, et al. Journal article Impaired Autophagic Flux in Skeletal Muscle of Plectin-Related Epidermolysis Bullosa Simplex With Muscular Dystrophy (2025) Zrelski M, Eckhard M, Fichtinger P, Hösele S, Sombke A, Mill L, Kustermann M, et al. Journal article Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs (2025) Bizzotto S, Talukdar M, Stronge EA, Ramirez RB, Yang Y, Huang AY, Hu Q, et al. Journal article MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma (2025) Friker LL, Perwein T, Waha A, Dörner E, Klein R, Blattner-Johnson M, Layer JP, et al. Journal article Continuing medical education in epileptology: The Level 1-2-3 experience of the ILAE academy (2025) Blümcke I, Biesel E, Wiebe S, Beniczky S, Wilmshurst JM, Mehndiratta MM, Asadi-Pooya AA, et al. Journal article Sudden cardiac death, arrhythmogenic cardiomyopathy and intercalated disc pathology due to reduced filamin C protein levels: a matter of life and death (2025) Holtzhausen C, Heil L, Klingel K, Fox H, Gummert J, Gärtner A, Schmidt A, et al. Journal article Clinical, surgical, and endocrine outcome following treatment of posterior pituitary tumors: a retrospective cohort study (2025) Kremenevski N, Schnell O, Coras R, Buchfelder M, Hore N Journal article Human brain tissue with MOGHE carrying somatic SLC35A2 variants reveal aberrant protein expression and protein loss in the white matter (2025) Cecchini E, Geffers S, Coras R, Schultheis D, Holtzhausen C, Karandasheva K, Herrmann H, et al. Journal article