Institute of Human Genetics

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay (2024) Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, et al. Journal article Plasma Neurofilaments: Potential Biomarkers of SPG11-Related Hereditary Spastic Paraplegia (2024) Krumm L, Winkler J, Winner B, Regensburger M Journal article Nanoparticles for the treatment of inflammatory conditions (2024) Janko C, Civelek M, Cicha I, Spielvogel H, Unterweger H, Alexiou C Journal article Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients. (2024) Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, et al. Journal article Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder (2024) Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, et al. Journal article Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center. (2023) Tögel L, Schubart C, Lettmaier S, Neufert C, Hoyer J, Wolff K, Moskalev E, et al. Journal article A reversible state of hypometabolism in a human cellular model of sporadic Parkinson’s disease (2023) Schmidt S, Stautner C, Vu DT, Heinz A, Regensburger M, Karayel O, Trümbach D, et al. Journal article Association of mineral and bone biomarkers with adverse cardiovascular outcomes and mortality in the German Chronic Kidney Disease (GCKD) cohort (2023) Reimer KC, Nadal J, Meiselbach H, Schmid M, Schultheiss UT, Kotsis F, Stockmann H, et al. Journal article A comparative observational study on intrasphincteric injections with Botulinum toxin vs. enteral neuromodulation in chronic refractory constipation (2023) Walther M, Müller H, Weiß C, Carbon R, Diez S, Besendörfer M Journal article Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients (2023) Yazar V, Kühlwein JK, Knehr A, Grozdanov V, Ekici AB, Ludolph AC, Danzer KM Journal article